Schedule of ASHG Scientific Sessions and Events
All events are at the Baltimore Convention Center (BCC) unless otherwise indicated. (*) Asterisk denotes meetings that
are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.
Tuesday, October 6
*8:00am-3:00pm
ASHG Undergraduate Faculty Genetics Education Workshop
Room 347
*8:30am-3:00pm
ASHG Board of Directors Meeting
Room 332
*9:00am-12:00pm
ASHG Program Committee Meeting #1
Room 331
11:00am-6:00pm
Speaker Presentation/Upload Room Open
Room 330
12:00-2:00pm
ASHG Social Issues Committee Meeting
Room 304
*1:00-4:00pm
ASHG/IGES Joint Symposium: Prospecting for Hidden Heritability:
Undiscovered Nuggets or Fool's Gold? (sold out)
Room 309
*2:00-3:30pm
Interactive Invited Workshop: Growing the Public Knowledge Base for
Clinical Genome Interpretation (sold out)
Hilton Hotel
Ballroom 1
4:30-5:00pm
1. ASHG Presidential Address: All in the Family – or “Gee our old
LaSalle ran great”
Hall F
5:00-6:45pm
2. Presidential Symposium: Genetic Epidemiology at Scale: High
Throughput Genomics Linked to Large Scale EHR Systems
Hall F
*6:45-8:15pm
ASHG Early Career Meet & Greet (sold out)
Camden Lobby
7:00-9:30pm
#ASHG Tweetup
Pratt Street Ale House,
Cantina Room
Wednesday, October 7
7:00am-7:00pm
ASHG Trainee Lounge Open
Pratt St. Lobby
*7:15-8:45am
Interactive Invited Workshop: Teaching Genomic Medicine:
A Train-the-Trainer Workshop (sold out)
Room 339-342
*7:15-8:45am
Interactive Invited Workshop: UCSC Genome Browser (sold out)
Room 337
8:00am-5:00pm
Speaker Presentation/Upload Room Open
Room 330
8:45-9:45am
3. ASHG/ESHG Building Bridges: Barriers and Drivers for the
Implementation of Clinical Sequencing: An International
Discussion
Hall F
9:00am-7:00pm
Exhibits and Posters Open for Viewing
Hall E
9:00am-7:00pm
ASHG/FASEB Career Resources Open
Hall E
9:50-10:30am
4. Featured Plenary Abstract Session I
Hall F
11:00am-1:00pm
Concurrent Invited Sessions I:
5. Building the Genetic and Genomic Atlas of Gynecologic Health
Hilton Hotel Ballroom 1
6. Cancer Genetics in the Genomics Era
Hall F
7. Epilepsy Genetics: Exomes, Mechanisms, and Interventions
Room 327
8. Human Phenotypes for Researchers, Clinicians and Patients
Room 318/321
9. Looking Beyond the Genes: Non-coding Mutations and 21st
Century Disease Genetics.
Ballroom I
10. Maternal Age and Recombination: Risks to Aneuploidy
Room 309
11. Mendelian Disorders of the Epigenetic Machinery:
Genetic Disorders with Epigenetic Consequences.
Room 307
12. Policy Challenges Affecting Clinical Integration of Next-Generation
Sequencing: Advancing Toward Resolution
Hilton Hotel Ballroom 4
13. Secure, Efficient, and Scalable Computational Genetics via
Summary Statistics
Room 316
14. When You Know You've Found the One: Fine-Mapping GWAS Hits Ballroom III
to a Single Variant
1:00-2:30pm
Lunch Break, Open Viewing for Posters and Exhibits
Hall E
1:00-2:30pm
ASHG Trainee Professional Development Program
Room 336
*1:00-2:30pm
ASHG Trainee-Mentor Luncheon (sold out)
Room 339
*1:15-2:30pm
ASHG Advocates Luncheon: The Precision Medicine Initiative with
Bray Patrick-Lake
Room 331
2:30-4:30pm
Concurrent Platform Session A:
15. Update on Breast and Prostate Cancer Genetics
Ballroom I
16. Switching on to Regulatory Variation
Ballroom III
17. Shedding Light into the Dark: From Lung Disease to Autoimmune
Disease
Room 307
18. Addressing the Difficult Regions of the Genome
Room 309
19. Statistical Genetics: Complex Phenotypes, Complex Solutions
Room 316
20. Think Globally, Act Locally: Copy Number Variation
Room 318/321
21. Recent Advances in the Genetic Basis of Neuromuscular and
Other Neurodegenerative Phenotypes
Hilton Hotel Ballroom 1
22. Neuropsychiatric Diseases of Childhood
Hilton Hotel Ballroom 4
5:00pm-7:00pm
Opening Poster Session and Reception (Wednesday Poster Authors
Present)
Hall E
*7:15pm-9:15pm
ASHG Reception: Career Paths in Genetics (sold out)
Camden Lobby
Thursday, October 8
7:00am-7:00pm
ASHG Trainee Lounge Open
Pratt St. Lobby
*7:15-8:45am
Interactive Invited Workshop: The Ensembl Toolkit for Big Data Access
(sold out)
Room 337
*7:15-8:45am
Interactive Invited Workshop: Clinical Applications of Psychiatric
Genomics (sold out)
Room 339
*7:30-8:30am
ASHG Past Presidents Breakfast
Room 305
*8:00-9:00am
ASHG Communications Committee Meeting
Room 304
8:00am-5:00pm
Speaker Presentation/Upload Room Open
Room 330
9:00-10:30am
23. Distinguished Speakers Symposium: The Art and Science of
Science Communication
Hall F
9:00am-3:00pm
Exhibits and Posters Open for Viewing
Hall E
9:00am-3:00pm
ASHG/FASEB Career Resources Open
Hall E
11:00am-1:00pm
Poster Session II (Thursday Poster Authors Present)
Hall E
1:00-2:30pm
Lunch Break, Open Viewing for Posters and Exhibits
Hall E
1:00-2:30pm
ASHG Trainee Professional Development Program
Room 336
*1:00-2:30pm
ASHG Event: Diagnostic Challenges: Review and Discussion of
Unique Cases (sold out)
Room 339
*1:00-2:30pm
Poster Walk I (sold out)
Hall E
*1:00-2:30pm
AJHG Editorial Board Meeting
Room 331
*1:00-2:30pm
ASHG Diversity Luncheon
Room 332
2:30-4:30pm
Concurrent Platform Session B:
24. Going All In: Experimental Characterization of Complex Trait Loci
Ballroom I
25. Powering Up Complex Trait Genetics
Ballroom III
26. Hereditary Cancer Genes: Old and New
Room 307
27. Advances in Epigenetics: What Would Waddington Say?
Room 309
28. Adult-onset Neuropsychiatric Disease
Room 316
5:00-7:00pm
29. The Ever-Changing Chromosome
Room 318/321
30. Connecting the Dots: Hard and Soft Tissue Syndromes
Hilton Hotel Ballroom 1
31. Genetics/Genomics Education: From Pupils to Parents
Hilton Hotel Ballroom 4
Concurrent Platform Session C:
32. Human-wide Association Studies: More Genotypes, More
Phenotypes, More Diverse Populations
Ballroom I
33. Decoding Variants in Coding Regions
Ballroom III
34. The Real Next Gen: Reproductive Genetics
Room 307
35. Genetic Problems of the Heart, Aorta, and Valves
Room 309
36. Methods Matter: Approaches for Genomic Analysis
Room 316
37. Clinical Genetics: From Sequence to Mechanism
Room 318/321
38. Clinical Impact of Genetic Variation
Hilton Hotel Ballroom 1
39. Mendel and Beyond: Looking Through Genome Sequences
Hilton Hotel Ballroom 4
7:00-8:00pm
ASHG Themed Networking Reception 1: Mendel’s 150th Anniversary
Celebration
Charles St. Lobby
7:00-8:00pm
ASHG Themed Networking Reception 2: Speaker Speed Networking
Ballroom Foyer
Friday, October 9
*7:00-8:30am
ASHG Information and Education Committee Meeting
Room 304
7:00am-7:00pm
ASHG Trainee Lounge Open
Pratt St. Lobby
*7:15-8:45am
Interactive Invited Workshop: Introduction to Integrative Analysis with
GenomeSpace (sold out)
Room 337
*7:15-8:45am
Interactive Invited Workshop: Latest and Greatest Innovation in Variant Room 343
Discovery with GATK (sold out)
*7:15-8:45am
Meeting of the ASHG Virtual Meeting Advisory Committee
Room 305
*7:30-9:30am
Exhibits Advisory Committee Meeting
Room 334
8:00am-5:00pm
Speaker Presentation/Upload Room Open
Room 330
9:00am-2:00pm
Exhibits and Posters Open for Viewing
Hall E
9:00am-2:00pm
ASHG/FASEB Career Resources Open
Hall E
8:45-9:00am
40. Gruber Genetics Prize Award Presentation and Rosalind Franklin
Award Announcement
Hall F
9:00-9:30am
41. ASHG William Allan Award Presentation
Hall F
9:30-9:45am
42. ASHG Arno Motulsky-Barton Childs Award for Excellence in
Human Genetics Education
Hall F
9:45-10:00am
43. ASHG Victor A. McKusick Leadership Award Presentation
Hall F
10:00-10:15am
44. ASHG Curt Stern Award Presentation
Hall F
10:15-10:30am
45. ASHG Advocacy Award Presentation
Hall F
10:45am-12:45pm Poster Session III (Friday Poster Authors Present)
Hall E
12:45-2:15pm
Lunch Break, Open Viewing for Posters and Exhibits
Hall E
*12:45-2:15pm
ASHG/NHGRI Public Policy and Education Fellows Luncheon
Room 304
12:45-2:15pm
ASHG Trainee Professional Development Program
Room 336
*12:45-2:15pm
Behind the Scenes: Mock NIH Study Section Workshop (sold out)
Room 339
*12:45-2:15pm
Poster Walk II (sold out)
Hall E
*12:45-2:15pm
Behind the Scenes: ASHG Publications Workshop (sold out)
Room 349
2:15-4:15pm
Concurrent Platform Session D:
46. Hen's Teeth? Rare Variants and Common Disease
Ballroom I
47. The Zen of Gene and Variant Assessment
Ballroom III
4:30-6:30pm
48. New Genes and Mechanisms in Developmental Disorders and
Intellectual Disabilities
Room 307
49. Statistical Genetics: Networks, Pathways, and Expression
Room 309
50. Going Platinum: Building a Better Genome
Room 316
51. Cancer Genetic Mechanisms
Room 318/321
52. Target Practice: Therapy for Genetic Diseases
Hilton Hotel Ballroom 1
53. The Real World: Translating Sequencing into the Clinic
Hilton Hotel Ballroom 4
Concurrent Platform Session E:
54. Changing Landscape of Genomic Testing
Ballroom I
55. Making Connections: From DNA Looping to eQTLs and
Tissue-specific Regulation
Ballroom III
56. Novel Genes, Novel Regulators, and Monogenic Diseases
Room 307
57. New Thoughts about Neurodevelopment and Intellectual Disability
Room 309
58. Schizophrenia and Brain Development
Room 316
59. Metabolic Traits and Disease: Discovery and Function
Room 318/321
60. The Ins and Outs of Blood Vessel Diseases
Hilton Hotel Ballroom 1
61. From Here to There: Reconstructing Human History
Hilton Hotel Ballroom 4
6:30-6:35pm
62. C.W. Cotterman Awards Announcement
Ballroom I
6:35-6:40pm
63. Announcement of the Finalists for the Charles J. Epstein Trainee
Awards for Excellence in Human Genetics Research
Ballroom I
6:40-7:30pm
64. ASHG Policy Forum and Business Meeting
Ballroom I
Saturday, October 10
7:00am-4:00pm
ASHG Trainee Lounge Open
Pratt St. Lobby
*7:15-8:45am
Interactive Invited Workshop: Integrative Analysis Using ENCODE and
Roadmap Epigenomics Data for Advanced Users (sold out)
Room 337
*7:15-8:45am
Interactive Invited Workshop: Introduction to NGS Visualization with
the Integrative Genomics Viewer (IGV) (sold out)
Room 343
*7:30-8:55am
ASHG Training and Development Committee Meeting
Room 304
8:00am-2:00pm
Speaker Presentation/Upload Room Open
Room 330
8:55-10:15am
65. Featured Plenary Abstract Session II
Hall F
10:30am-12:30pm Concurrent Platform Session F:
66. Computing Functional Variants
Ballroom I
67. Opening Up Big Data
Ballroom III
68. Statistical Genetics: Analyze Family-wise
Room 307
69. The Causes and Consequences of Evolutionary Change
Room 309
70. Precision Cancer Sequencing
Room 316
71. New Insights in Gene Regulation
Room 318/321
72. Inborn Errors of Metabolism: Novel Disorders, Models, and
Observations
Hilton Hotel Ballroom 1
73. Intellectual Ability and Disability
Hilton Hotel Ballroom 4
12:30-1:45pm
Lunch Break
*12:30-1:45pm
ASHG Program Committee Meeting #2
Room 331
*12:30-1:45pm
ASHG Awards Committee Meeting
Room 332
1:45-3:45pm
Concurrent Invited Sessions II:
74. Gene Editing/Rewriting the Genome: Moving from Association to
Biology and Therapeutics
Ballroom III
75. Genetic Control of the Microbiome
Room 307
76. Integrating Genomes and Transcriptomes to Understand Human
Disease
Hall F
77. Life Beyond Additive Variance
Room 316
78. Multiplexed and Multimodal Experimental Dissection of Genetic
Variants
Ballroom I
79. Optimizing Clinical and Molecular Characterisation and
Management in Skeletal Dysplasias
Room 327
80. Research Partners, Not Subjects: Engaging Indigenous Peoples in Hilton Hotel Ballroom 4
Genetics
81. The Landscape of de novo Point Mutations in the Human
Genome: How Many, Where, When and Why?
Room 309/310
82. Translating Genomic Knowledge into Clinical Practice
Hilton Hotel Ballroom 1
83. Understanding Disease Pathogenesis: A Grand Challenge for
Model Organisms
Room 318/321
Tuesday, October 6
4:30 PM–5:00 PM
Wednesday, October 7
8:45 AM–9:45 AM
1. ASHG Presidential Address: All in the Family – or
“Gee our old LaSalle ran great”
3. ASHG/ESHG Building Bridges: Barriers and
Drivers for the Implementation of Clinical Sequencing:
An International Discussion
Hall F, Level 1, Convention Center
Moderator: Neil Risch, ASHG 2015 President
The notion of family is seminal in human genetics for many reasons: the
inheritance and genetic basis of traits is discerned from family patterns;
arguments about heritability and nature versus nurture are derived from
studies of family relationships; population genetic structure and social
diversity are determined by patterns of mate choice; genetic information is
typically delivered in the context of families. The classic 1970’s sitcom “All
in the Family” broke new ground as it documented social changes occurring
at the time, often leaving the family patriarch Archie Bunker at a loss. “All
in the Family” has given way to “Modern Family” in our time, a show that
documents further diversification of the classic family unit, including i
ncreasing intermarriage and gay couples. Definitions of family are evolving
and expanding, as are definitions of race and gender. Our society of
geneticists can also be considered a family, one that is large, diverse and
specialized. At the same time, genomic technologies such as NIPT, whole
genome sequencing and genome editing are advancing to the point of
imminent common use in clinical practice. These dramatic shifts both in
society and technology are pushing the boundaries of our experience,
creating both challenges and opportunities, in research and clinical
practice. Archie Bunker was often ill prepared to deal with the impact of
modernity. Are we?
Hall F, Level 1, Convention Center
Moderators: Chris Gunter, ASHG 2015 Program Chair
Joris Veltman, ESHG 2016 Program Chair
Through the “Building Bridges” series, both the American and European
Societies of Human Genetics have committed to discussion of important
issues affecting their members. At ASHG 2015, this plenary session is a
discussion with meeting attendees about perceptions of clinical sequencing
in the US and the EU. Our speakers will cover the regulation of
next-generation sequencing testing by the US FDA and implementation of
sequencing in large cohort projects, as well as legislative proposals in the
EU to restrict genetic testing and the community response to them.
8:45 AM: Introduction.
8:50 AM: Perspectives.
Philippos Patsalis. Cyprus Inst. Neurology Genet.
Elizabeth Mansfield. OIR/CDRH/FDA, Silver Spring.
David Barton. Our Lady’s Children’s Hosp, Dublin, Ireland.
Wendy Chung. Columbia Univ, New York.
9:15 AM: Discussion.
Tuesday, October 6
5:00 PM–6:45 PM
This “Building Bridges” session is the third in a continuing series conducted
in conjunction with the European Society of Human Genetics.
2. Presidential Symposium: Genetic Epidemiology at
Scale: High Throughput Genomics Linked to Large
Scale EHR Systems
Wednesday, October 7
9:50 AM–10:30 AM
Moderator: Neil Risch, ASHG 2015 President
Hall F, Level 1, Convention Center
The past decade has witnessed the development of large electronic health
record (EHR) based cohorts linked to genomic information, primarily
genome-wide genotyping. The power of such cohorts to produce novel
genetic associations has been amply demonstrated. Currently and in the
near future, resources such as the Kaiser Permanente Research Program
on Genes, Environment and Health; the UK Biobank; the VA Million Veteran
Program; and others are making available genetic data linked to
comprehensive EHR-based clinical outcomes and traits on over a million
people. At the same time, the President of the United States and the
Director of NIH are spearheading a new Precision Medicine Initiative (PMI)
to create a cohort of a million individuals that will support research into
precision medicine and its clinical application. This symposium will provide
an update on the latest developments of the PMI, and discussions of the
various genetic, genomic, and epidemiological characteristics of this and
other existing cohorts. Large EHR-based cohorts provide an
unprecedented opportunity, and the goal is to maximize their utility for future
research into the genetic and environmental origins of common diseases,
their risk factors, prevention, and treatment.
Moderator: Chris Gunter, 2015 Program Chair
Hall F, Level 1, Convention Center
Introduction
The U. S. Precision Medicine Initiative. Francis Collins. NIH, Bethesda.
Personalized medicine, an epidemiological perspective. David Hunter.
Harvard T.H. Chan Sch Publ Hlth, Boston
Studying genetic variation in large cohorts. Naomi Wray. Univ
Queensland, Australia.
‘Omics and electronic health records - a dynamic duo.
Marylyn Ritchie. Geisinger Hlth System, Penn State Univ
4. Featured Plenary Abstract Session I
1/9:50
Massively parallel experimental analysis of missense
mutations in BRCA1 for interpreting clinical variants
of uncertain significance. L. M. Starita
2/10:10
Matrix metallopeptidase 21 (MMP21) is mutated in
human heterotaxy and is an essential determinant of
vertebrate left-right asymmetry. J. Amiel
Download the ASHG 2015
Mobile App Now!
http://www.ashg.org/MeetingApp/
You can also scan
this code with a QR
Readeron your
device.
Wednesday, October 7: Concurrent Invited Sessions I
Time
Holiday Ballroom 1, 2nd
Floor
SESSION 05 – Building the
Genetic and Genomic Atlas
of Gynecologic Health
Co-Moderators: Cecilia M.
Lindgren, Broad Inst Harvard
& MIT, Boston; and Stacey
Missmer, Harvard Univ,
Boston
Hall F, Level 1
Room 327, Level 3
Room 318/321, Level 3
Ballroom I, Level 4
SESSION 06 – Cancer
Genetics in the Genomics
Era
Co-Moderators: Daniel C.
Koboldt, Washington Univ,
St. Louis; and Adam S. Kibel,
Brigham & Women, Boston
SESSION 07 – Epilepsy
Genetics: Exomes,
Mechanisms, and
Interventions
Co-Moderators: Miriam H.
Meisler, Univ Michigan,
Ann Arbor; and Heather C.
Mefford, Univ Washington,
Seattle
SESSION 08 – Human
Phenotypes for
Researchers, Clinicians
and Patients
Moderator: Jonathan Haines,
Case Western Reserve Univ,
Cleveland
SESSION 09 – Looking
Beyond the Genes:
Non-coding Mutations and
21st Century
Disease Genetics.
Co-Moderators: Malte
Spielmann, Max Planck Inst
for Molec Genet, Berlin,
Germany; and Sumantra
Chatterjee, Johns Hopkins
Univ Sch Med, Baltimore
11:00 am
Genetics of menarche and
menopause reveal diverse
biologic pathways. J. M.
Murabito.
Somatic mutations in
pediatric solid tumors and
identification of druggable
pathways. M. A. Dyer.
Exome sequencing in epilep- What is a phenotype? It
sy. H. C. Mefford.
depends…. A. Kho.
Deletion studies of
distant-acting enhancers
uncover their functions in
human biology and disease
processes. A. Visel.
11:30 am
Genetics and genomics of
polycystic ovary syndrome
(PCOS). C. M. Lindgren.
Computational approaches
for large-scale cancer
genetics. L. Ding.
Functional effects of sodium
channel mutations. M. H.
Meisler.
How do we collect
phenotypes? Common
measures facilitate collaborative research. C. McCarty.
The influence of structural
variation on genomic
integrity and gene regulation.
M. Spielmann.
12:00 pm
Endometriosis:
Germline studies of the
Genomics meets phenomics. Pan-Cancer Analysis of
K. Zondervan
Whole Genomes (PCAWG).
J. Korbel.
Re-programmed neurons
and cardiomyocytes from
patient iPSCs. L. L. Isom.
Why are phenotypes
important? Using phenotypes
to support genomic
interpretation and discovery.
H. Rehm.
The enhancer mutation
problem: Figuring out
phenotype based on genotype. N. Ahituv.
12:30 pm
From GWAS to therapy in
uterine leiomyomata. C.
Morton.
Who is involved? Phenotypes
as measures for research
participants.
J. O’Leary
Functional consequences of
common
non-coding
polymorphisms in
Hirschsprung disease.
S. Chatterjee.
The somatic origins of cancer High throughput drug discovrevealed through integrated
ery in a zebrafish model. S.
pan-cancer analysis. J.
C. Baraban.
Stuart.
11:00 AM–1:00 PM
Room 309, Level 3
Room 307, Level 3
SESSION 10 – Maternal Age
and Recombination: Risks to
Aneuploidy
Co-Moderators: Ross Rowsey,
Washington State Univ,
Pullman; and Louise Newnham,
Univ Sussex, Brighton, United
Kingdom
SESSION 11 – Mendelian
Disorders of the Epigenetic
Machinery: Genetic Disorders
with Epigenetic
Consequences.
Co-Moderators: Hans T.
Bjornsson, McKusick-Nathans
Inst Genet Med, Johns Hopkins
Univ, Baltimore; and Sharon E.
Smith, Boston Children’s Hosp,
Boston
Kabuki syndrome: a potentially
treatable cause of intellectual
disability. H. T. Bjornsson.
Room 316, Level 3
Ballroom III, Level 4
SESSION 12 – Policy
Challenges Affecting Clinical
Integration of
Next-Generation Sequencing:
Advancing Toward
Resolution
Co-Moderators: Mary A.
Majumder, Baylor Col
Med, Houston; and Robert
Cook-Deegan, Duke Univ,
Durham
Barriers to clinical integration
of next-generation sequencing
and possible policy solutions:
Results of an expert panel
policy Delphi exercise. D.
Messner.
SESSION 13 – Secure,
Efficient, and Scalable
Computational Genetics via
Summary Statistics
Co-Moderators: Noah Zaitlen,
UCSF, San Francisco; and
Nancy J. Cox, Univ Chicago
SESSION 14 – When You
Know You’ve Found the One:
Fine-Mapping GWAS Hits to a
Single Variant
Co-Moderators: Jeffrey C.
Barrett, Wellcome Trust Sanger
Inst, Hinxton, United Kingdom;
and Mark J. Daly,
Massachussetts Gen Hosp,
Boston
Fully powered polygenic
prediction using summary
statistics. A. Price.
Large scale fine-mapping in
inflammatory bowel disease. J.
C. Barrett.
Next-generation sequencing:
What is the appropriate
regulatory framework? G.
Javitt.
Mining GWAS summary
statistics for insight into shared
disease mechanisms. J. K.
Pickrell.
Trans-ancestry approaches to
fine-mapping GWAS loci. K. L.
Mohlke.
Maintaining centromere identity MBD5-associated intellectual
in the mammalian oocyte. E. M. disability: A methyl-binding
Smoak.
protein that regulates target
gene expression affecting
circadian, developmental, and
neurological pathways. S. H.
Elsea.
Proprietary databases: Gaining
traction on an “intractable”
problem. R. Cook-Deegan.
Integrative approaches for
multi-ethnic fine-mapping of
known risk loci. B. Pasaniuc.
The right cells in the right place.
G. Trynka.
Multiple routes to maternal
age-related aneuploidy. R.
Rowsey.
Addressing reimbursement
challenges for next-generation
sequencing. P. Deverka.
Tissue-specific imputed
High throughput experimental
transcriptome based gene level fine-mapping of individual
association test using summary variants. K. Musunuru.
statistics. H. Im.
Human ‘MeioMaps’:
Genome-wide meiotic
recombination and
chromosome segregation
outcomes in individual human
oocytes. L. Newnham.
Recombination initiation maps
in human individuals. F. Pratto.
ATR-X syndrome: How defects
of a chromatin remodeler
lead to alpha thalassemia. R.
Gibbons.
Defects of the maintenance
methyltransferase DNMT1 lead
to progressive neurological
phenotypes in association with
global hypomethylation. C.
Klein.
Holiday Ballroom 4, 2nd
Floor
Exhibits & Posters Open
Wednesday, October 7
9:00 am – 2:30 pm
4:30 pm – 7:00 pm
Thursday, October 8
9:00 am – 3:00 pm
Friday, October 9
9:00 am – 2:30 pm
Wednesday, October 7: Concurrent Platform Session A
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 15 – Update on
Breast and Prostate Cancer
Genetics
Co-Moderators: Melinda Aldrich,
Vanderbilt Univ, Nashville; and
Marc Tischowitz, Univ
Cambridge, UK
SESSION 16 – Switching on to
Regulatory Variation
Co-Moderators: Gosia Trynka,
Sanger Inst, Hinxton, UK; and
Yang Li, Stanford Univ
SESSION 17 – Shedding Light
into the Dark: From Lung
Disease to Autoimmune
Disease
Co-Moderators: Martin Tobin,
Univ Leicester, UK; and Tonu
Esko, Children’s Hosp Boston
SESSION 18 – Addressing
the Difficult Regions of the
Genome
Co-Moderators: Stephen Lincoln,
Invitae, San Francisco; and
Jennifer Lee, Greenwood Genet
Ctr
2:30 pm
3 Meta-analysis of OncoArray,
iCOGS, and GWAS data for more
than 220,000 women identifies
more than 50 novel breast cancer
susceptibility loci.
K. Michailidou et al.
11 Integrative approaches for
large-scale transcriptome-wide
association studies. A. Gusev
et al.
19 The contribution of the
cysteinyl leukotriene 1 (CysLT1)
gene and other genetic loci to
atopic asthma in the Tristan da
Cunha population.
M. D. Thompson et al.
27 Long read single-molecule
real-time (SMRT) full gene
sequencing of cytochrome P450
2D6 (CYP2D6). Y. Yang et al.
2:45 pm
4 Exome sequencing to identify
new genes underlying early-onset
breast cancer susceptibility. D.
Koboldt et al.
12 Improved identification of
the genetic basis of disease by
integrated analysis of RNA-seq
together with whole-genome and
exome-based sequencing data.
D. W. Craig et al.
20 Utilizing an African specific
genotyping array for a large-scale
GWAS for asthma in African
Americans. H. R. Johnston et al.
28 An NGS-based carrier screen
for congenital adrenal
hyperplasia with 95% detection
rate. D. Muzzey et al.
3:00 pm 5 Five independent 6q25 breast
cancer risk variants regulate
ESR1 and RMND1 and display
genotype-phenotype correlations.
S. Edwards et al.
13 Comprehensive
transcriptome analysis using
synthetic long read sequencing
reveals molecular co-association
and conservation of distant
splicing events. H. Tilgner et al.
21 Integration of genome-wide
association data and human
protein interaction networks
identifies a gene sub-network
underlying childhood-onset
asthma. Y. Liu et al.
29 Supplemental CNV analysis in
NGS genepanel data in a
diagnostic setting.
J. J. Saris et al.
3:15 pm
6 Breast cancer risk at the 5p12
locus is mediated through
chromatin looping and
regulation of FGF10 and
MRPS30. M. Ghoussaini et al.
14 Comprehensive genome and
transcriptome structural analysis
of a breast cancer cell line using
PacBio long read sequencing. M.
Nattestad et al.
22 The utility of real world data
for performing genetic target validation: TRPV4 and lung edema.
D. Waterworth et al.
30 The application of the
CNVSeq method for whole
genome copy number variant
detection. A. Tzika et al.
3:30 pm
7 Cross-cancer genome-wide
pleiotropy analysis based on
GAME-ON and GECCO across
five common cancers: Lung,
ovary, breast, prostate, and colon
cancer. R. J. Hung et al.
15 Tissue-specific
transcriptome-wide networks
reflect joint regulation of
alternative splicing and gene
expression. A. Saha et al.
23 Quantifying heritability
explained in inflammatory bowel
disease using 18,000 GWAS and
9,000 next generation
sequencing data. Y. Luo et al.
31 Detection of relevant
pharmacogenomic variants and
CYP2D6 copy number using a
highly multiplexed next
generation sequencing assay.
F. C. L. Hyland et al.
3:45 pm
8 Common genetic variants
modify breast and prostate
cancer risks for male BRCA1 and
BRCA2 mutation carriers: Implications for risk prediction.
L. Ottini et al.
16 Massively parallel
quantification of the regulatory
effects of non-coding variation
reveals functional variants
associated with fetal adiposity. C.
Guo et al.
24 The X-factor of complex
disease: Methods, software, and
extensive application for studying
the X chromosome in association
studies. A. Keinan.
32 Next-generation
sequencing-based genetic testing
of autosomal dominant polycystic
kidney disease. P. C. Wu et al.
4:00 pm
9 Whole exome sequencing in 75
high-risk families identifies eight
previously unknown prostate
cancer susceptibility genes.
D. M. Karyadi et al.
17 Detection of trans and cis
splicing QTLs through large scale
cancer genome analysis.
K. Lehmann et al.
25 Imputation of low-frequency
variants identifies novel
Alzheimer's disease loci in the
IGAP Consortium.
B. Kunkle et al.
33 A method for detecting
intragenic copy number changes
of BRCA1 and BRCA2 using
next-generation sequencing data.
P. J. B. Sabatini et al.
4:15 pm
10 Population and evolutionary
genomics of prostate
cancer-associated variants:
Implications for health disparities
in men of African descent.
J. Lachance et al.
18 The landscape of X
inactivation across human
tissues: From single cells to population sequencing. T. Tukiainen
et al.
26 A new locus of genetic
resistance to severe malaria is
associated with a locus of ancient
balancing selection. G. Band.
34 DNA combing as a first-tier
genetic testing for
facioscapulohumeral dystrophy
type 1: A cohort of 155 patients.
J. Wang et al.
2:30 PM–4:30 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd
Floor
SESSION 19 – Statistical Genetics:
Complex Phenotypes, Complex
Solutions
Co-Moderators: Andrew DeWan, Yale
Univ, New Haven; and Kristel Van
Steen, Univ of Liege, Belgium
SESSION 20 – Think Globally, Act
Locally: Copy Number Variation
Co-Moderators: Patricia M. Miron,
UMass Mem Med Ctr, Worcester; and
Azra Ligon, Brigham and Women’s
Hosp, Boston
SESSION 21 – Recent Advances in
the Genetic Basis of
Neuromuscular and Other Neurodegenerative Phenotypes
Co-Moderators: Megan Dennis, UC
Davis; and Marina Kennerson, ANZAC
Res Inst, Concord, Australia
SESSION 22 –
Neuropsychiatric Diseases of
Childhood
Co-Moderators: Peristera
Paschou, Democritus Univ
Thrace, Alexandroupoli, Greece;
and Jennifer Mulle, Emory Univ,
Atlanta
35 Pitfalls in development of statistical
methods for rare variant association
studies. G.T. Wang et al.
43 Association of copy number
variations with decreased cognitive
phenotypes and fitness in unselected
populations. A. Reymond et al.
51 RNA sequencing of a mouse model 59 Results from the largest
GWAS of autism spectrum
of spinal muscular atrophy reveals
tissue-wide changes in splicing of
disorder to date. J. Grove.
U12-dependent introns in genes
involved in cell cycle, intracellular
trafficking, and neuronal function. T.
K. Doktor et al.
36 Ignoring pleiotropy bias in
Mendelian randomization with
polygene scores can easily lead to
incorrect inferences about causality.
C. M. Astley et al.
44 The role of transcription in
mammalian cell copy number variant
formation. S. Park et al.
52 BAC transgenic model of
C9ORF72 ALS/FTD. Y. Liu et al.
60 De novo likely gene disrupting
mutations and genic copy
number variants increase the
risk for Tourette’s Disorder. T. V.
Fernandez et al.
37 Mendelian randomization provides
evidence for a causal effect of low
vitamin D on multiple sclerosis risk:
Results from the Kaiser Permanente
MS Research Program.
B. Rhead et al.
45 Quantitative functional studies
using Drosophila melanogaster
identify dosage-sensitive and
sex-specific effects of
neurodevelopmental genes.
J. S. Iyer et al.
53 Altered RNA processing in ALS4.
C. Grunseich et al.
61 Rare copy number variants
implicate neuronal cell adhesion
molecules in Tourette Syndrome.
A. Huang et al.
38 Contrasting regional architectures
of schizophrenia and other complex
diseases using fast variance
components analysis. P. Loh et al.
46 Single-cell analysis reveals that
endogenous retrotransposons
generate somatic mosaicism in
neuronal and non-neuronal cells. J. A.
Erwin et al.
54 A recurrent mutation in KCNA2
in complicated autosomal dominant
spastic paraplegia: An expansion
of the channelopathy spectrum and
a novel disease mechanism. K. L.
Helbig et al.
62 Whole exome sequencing
with simultaneous analysis of
both parents has a high
diagnostic yield for patients with
epilepsy and neurodevelopmental disorders. M. Stosser et al.
39 Multivariate analysis of whole
exome sequence data identifies rare
variants with pleiotropic effects on
obesity-related metabolic traits in
31,000 participants of the Regeneron
Genetics Center – Geisinger MyCode
collaborative project – DiscovEHR. S.
Mukherjee et al.
47 Evolution and structural diversity of
the complement factor H related gene
cluster. S. Cantsilieris et al.
55 Mouse resources for comparative
Mendelian genomics. L. Reinholdt
et al.
63 Gene discovery and
high-throughput resequencing
of candidate genes in epileptic
encephalopathies. C. T. Myers
et al.
40 Quantifying penetrance in a
dominant disease gene using large
population control cohorts. E. V.
Minikel et al.
48 Repetitive DNA at CNV
breakpoints is susceptible to gross
chromosomal rearrangement. K.
Rudd et al.
56 Activation of the DNA damage response in an induced model of spinal
muscular atrophy. M. Jangi et al.
64 Loss-of-function mutations in
SLC12A5 encoding the
potassium-chloride
co-transporter KCC2 in epilepsy
of infancy with migrating focal
seizures. T. Stödberg et al.
41 Evaluation of the regional
variability of missense constraint in
60,000 exomes. K. E. Samocha et al.
49 A potential role for the linker for
activation of T-cells (LAT) in the
neuroanatomical phenotype of the
16p11.2 BP2-BP3 CNVs.
M. N. Loviglio et al.
57 Recessive mutations in the
UGO1-like protein SLC25A46 cause
an optic atrophy. T. Huang et al.
65 Functional analysis of
GRIN2A mutations in childhood
epileptic encephalopathies.
L. Addis et al.
42 MARV: A novel method and
software tool for genome-wide
multi-phenotype analysis of rare
variants. M. Kaakinen et al.
50 Paired-duplications mark cryptic
inversions and are a common
signature of complex structural
variation that is misclassified by
chromosomal microarray.
H. Brand et al.
58 Neuronal aneuploidy and associated apoptosis in familial and sporadic
frontotemporal lobar degeneration
indicate that FTLD, like Alzheimer’s
disease and Niemann-Pick C1, is a
cell cycle disorder. H. Potter et al.
66 Hyperexcitability of neurons
and cardiomyocytes in a mouse
model of SCN8A epileptic
encephalopathy.
J. L. Wagnon et al.
Thursday, October 8
9:00 AM–10:30 AM
23. Distinguished Speakers Symposium: The Art and
Science of Science Communication
Hall F, Level 1, Convention Center
Moderator: Chris Gunter, ASHG 2015 Program Chair
In 2015, doing great science is often not enough. We need to be able to effectively communicate our scientific processes and findings to multiple audiences
in order to win funding and public support. This symposium features three
trailblazers in science communication, working through multiple media sources
to engage people with the exciting and challenging stories of human genetics.
Our speakers will be Ed Yong, one of the best science journalists working
today and author of the blog “Not Exactly Rocket Science”; Liz Neeley, executive director of The Story Collider and architect of science outreach strategies
based on public engagement data; and Andrea Downing, patient and data
sharing advocate and creator of an online community around BRCA findings.
9:00 AM
Introduction. C. Gunter. Marcus Autism Ctr, Emory Univ Sch of
Med, Children’s Healthcare of Atlanta.
9:10 AM
“Nobody has to read this crap”, or Why science journalism is
not science communication and why that matters. E. Yong.
Science Writer.
9:35 AM
The stories we tell ourselves about science communication. L.
Neeley. The Story Collider.
10:00 AM
ePatients and the power of a connected community. A. Downing. Advocate and Writer.
Thursday, October 8: Concurrent Platform Session B
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 24 – Going All In:
Experimental Characterization
of Complex Trait Loci
Co-Moderators: Casey Brown,
Univ Penn, Philadelphia; and
Barbara Stranger, Univ Chicago
SESSION 25 – Powering Up
Complex Trait Genetics
Co-Moderators: Barbara
Engelhardt, Princeton Univ.; and
Benjamin Neale, Broad Inst,
Cambridge
SESSION 26 – Hereditary
Cancer Genes: Old and New
Co-Moderators: Angela
Brooks-Wilson, Canada’s Michael
Smith Genome Sci Ctr,
Vancouver, Canada; and Douglas
Stewart, NCI/NIH, Rockville
SESSION 27 – Advances in
Epigenetics: What Would
Waddington Say?
Co-Moderators: Reid Alisch, Univ
Wisconsin, Madison; and Terry
Furey, UNC Chapel Hill
2:30 pm
67 Genome-wide analysis of
multi-ancestry cohorts identifies
new loci influencing
glaucoma-related
endophenotypes. A. Iglesias
Gonzalez et al.
75 Integrative tissue-specific
functional annotations in the
human genome provide novel
insights on many complex traits
and improve replication rates in
genome wide association studies.
Q. Lu et al.
83 Germline mutations in
cancer-predisposition genes in
1,120 children with cancer: A
report from the Pediatric Cancer
Genome Project. J. Zhang et al.
91 Epigenetic and
transcriptional dysregulation of
oxytocin receptor (Oxtr) in Tet1
methylcytosine dioxygenase
deficient mouse brain. A. J.
Towers et al.
2:45 pm
68 The genomic region harboring
the type 2 diabetes presumed
causal variant within TCF7L2
forms long-range functional
connections with ACSL5. M. E.
Johnson et al.
76 A general analytical
framework to identify pathogenic
genes underlying complex
diseases. P. Shooshtari et al.
84 Germline variants among
unselected patients enrolled in
a tumor/normal cancer genomic
sequencing project identifies a
high percentage with inherited
risk. V. M. Raymond et al.
92 GWAS meta-analysis
identifies susceptibility loci for
epigenetic age acceleration in
human cerebellum. A. Lu et al.
3:00 pm 69 Genome-wide association
studies identify RAB38 and
HS6ST1 associated with albuminuria in diabetes. A. Teumer.
77 metaCCA: Summary
statistics-based multivariate
meta-analysis of genome-wide
association studies using
canonical correlation analysis. A.
Cichonska et al.
85 Somatic TP53 mutations
detected in germline testing: The
importance of phenotypic
correlation in cancer predisposition testing. J. N. Weitzel et al.
93 Methylomic aging as a window
on lifestyle impact: Tobacco and
alcohol alter the rate of biological
aging. M. V. Dogan et al.
3:15 pm
70 Chromosome interaction
analysis of risk loci in related
autoimmune diseases reveals
complex, long-range promoter
interactions implicating novel
candidate genes. P. Martin et al.
78 A systematic analysis of
differential pathway architectures
in diverse functional genomics
networks for large-scale
prediction of pathways from
GWAS and exome-sequencing
projects. J. D. Mercer et al.
86 ChIP-Seq analysis of
lymphocytes from
Li-Fraumeni patients reveals the
drastic impact on p53 DNA
binding of heterozygous TP53
mutations associated with
early-onset cancers.
T. Frebourg et al.
94 A survey of DNA methylation
polymorphism in the human
genome identifies
environmentally responsive
co-regulated networks of
epigenetic variation.
R. Joshi et al.
3:30 pm
71 A rare A2ML1 variant confers
susceptibility to otitis media and
causes changes in the middle
ear microbiome. R. L. P. Santos-Cortez et al.
79 Identifying genetically-driven
clinical phenotypes using linear
mixed models. J. D. Mosley et
al.
87 Tumour risks and
genotype-phenotype-proteotype
analysis of 800 patients with
germline mutations in the
succinate dehydrogenase subunit
genes SDHB, SDHC, and SDHD.
E. R. Maher et al.
95 A novel predictive model of
sexual orientation using
epigenetic markers. T. C. Ngun
et al.
3:45 pm
72 Systems genetics approach
unravels the molecular
mechanisms underlying lung
function variation and uncovers
novel therapeutic targets for
COPD. M. Obeidat et al.
80 Genetic validation and
application of pathway-based
annotation for unknown signals in
untargeted metabolomics. Y. H.
Hsu et al.
88 A parent-of-origin effect
impacts the phenotype in low
penetrance retinoblastoma
families segregating the
p.Arg661Trp mutation of RB1. C.
Houdayer et al.
96 RNF12 is essential for
X-inactivation in female mouse
embryonic stem cells, is required
for female mouse
development, and might be a
target for future therapies to treat
X-linked disorders in females:
Evidence from a mouse knockout
model. S. Barakat et al.
4:00 pm
73 Fine-mapping and molecular
assays identify multiple functional
variants at the ANGPTL8 HDL-C
GWAS locus.
M. E. Cannon et al.
81 Quantifying uncertainty in
heritability estimation using linear
mixed models.
R. Schweiger et al.
89 Germline and somatic
inactivating SMARCA4 mutations in small cell carcinoma of
the ovary, hypercalcemic type
(SCCOHT): Diagnostic and
therapeutic
implications.
P. Ramos et al.
97 Deep learning the relationship
between chromatin architecture,
chromatin state, and transcription
factor binding.
A. Kundaje et al.
4:15 pm
74 Functional analyses of type 2
diabetes-associated loci provides
mechanistic insight into genetic
susceptibility. E. A. O'Hare et al.
82 Genotype imputation with
millions of reference samples. B.
L. Browning et al.
90 Common variants in MMP20
at 11q22.2 predispose to 11q
deletion and impact
neuroblastoma risk.
X. Chang et al.
98 Inter-planetary systems
biology reveals differences in twin
astronauts at the genetic,
epigenetic, transcriptional, and
epitranscriptomic levels.
C. Mason.
2:30 PM–4:30 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd
Floor
SESSION 28 – Adult-onset
Neuropsychiatric Disease
Co-Moderators: Dan Arking, Johns
Hopkins, Baltimore; and Nora Urraca,
Le Bonheur Children’s Hosp,
Memphis
SESSION 29 – The Ever-Changing
Chromosome
Co-Moderators: Natalia Leach,
Integrated Genetics/Lab Corp,
Westborough; and Athena Cherry,
Stanford Univ
SESSION 30 – Connecting the Dots:
Hard and Soft Tissue Syndromes
Co-Moderators: Anne Slarotinek,
UCSF; and Nathaniel Robin, Univ
Alabama Birmingham
SESSION 31 – Genetics/
Genomics Education: From
Pupils to Parents
Co-Moderators: Arti Pandya,
UNC Chapel Hill; and Karen
Weissbecker-Reimer, Tulane
Univ, New Orleans
99 Vitamin D and risk of multiple
sclerosis: A Mendelian randomization
study. L. E. Mokry et al.
107 Missed connections: Failure to
recombine is a common feature of
human oogenesis. T. Hassold et al.
115 Pathogenesis, risk stratification,
and management of
pregnancy-associated aortic dissection in Marfan syndrome and related
connective tissue disorders.
M. L. Russo et al.
123 Development of the GLASS:
Genetics Literacy Assessment
for Secondary Schools. R. J.
Okamura et al.
100 Genome-wide interaction study
of Parkinson disease and vitamin D
deficiency implicates immune system
pathways. W. K. Scott et al.
108 An isogenic trisomic-disomic
model system using cells from people
with mosaic Down syndrome unmasks
trisomy 21 associated increases in
age-related chromosomal instability
and telomere shortening.
K. Rafferty et al.
116 Williams-Beuren syndrome as
an epigenetic disease: Association of
GTF2IRD1 with chromatin silencing
complexes. P. Carmona-Mora et al.
124 New tool for measuring
genetic variation knowledge
among health professionals. K.
Abdallah et al.
101 DNAJC6 mutations associated
with early-onset Parkinson’s disease.
S. Olgiati et al.
109 Runs of homozygosity (ROH)
reveal correction of chromosomal
imbalances during fetal development.
A. L. Penton et al.
117 Pseudoxanthoma elasticum:
Expanding ABCC6 mutation database
and pathogenicity test of missense
mutations by zebrafish mRNA rescue.
S. Raftari et al.
125 Knowledge and attitudes of
medical residents and fellows
working in various hospitals of
the United States of America,
on genetic testing for disease
specific biomarkers and
knowledge of precision medicine.
S. Ghavimi et al.
102 A novel protein aggregation
mechanism triggered by translation of
cryptic amyloidogenic elements in the
3' UTR of neurofilament genes.
A. Rebelo et al.
110 Genomic imbalances in fetuses
and patients with congenital heart
malformation. I. Maya et al.
118 Comparison of phenotypic
features associated with TGFBR1 and
TGFBR2 mutations: Results of the
Montalcino Aortic Consortium.
G. Jondeau et al.
126 Evolution from expository to
open inquiry learning to improve
genetic literacy.
T. C. Tatum Parker et al.
103 Identification of a founder
mutation in ABCA7 in a Belgian cohort
of Alzheimer's disease patients.
K. Sleegers et al.
111 The role of copy number losses in
non-syndromic cleft lip and palate.
L. A. Harney et al.
119 Variations in non-coding regions
of TGFβ3, CDH2, and IRF6, affecting
their expression, show association
with cleft lip and palate (CL±P). P.
Kumari et al.
127 Evaluation of a web-based
decision aid for people considering the APOE genetic test for
Alzheimer’s risk.
D. T. Zallen et al.
104 SORL1 rare variants: A major risk
factor for familial early onset
Alzheimer disease. G. Nicolas et al.
112 Interchromosomal core duplicons
drive recurrent complex inversions
within the chromosome 8p23.1 region.
K. Mohajeri et al.
120 Natural history of dermatan
4-O-sulfotransferase 1
(D4ST1)-deficient Ehlers-Danlos
Syndrome (DDEDS): From an
international collaborative clinical
study by the International Consortium
for EDS. T. Kosho et al.
128 Introduction of population
based NGS expanded carrier
screening in the Netherlands.
K. M. Abbott et al.
105 Loss-of-function mutations in
TBK1 are a frequent cause of
frontotemporal dementia and
amyotrophic lateral sclerosis in
Belgian and European cohorts.
C. Van Broeckhoven et al.
113 Characterization of mosaic
chromothripsis in the human germline
by chromosomal microarray and
whole genome sequencing.
F. Quintero-Rivera et al.
121 Cbx3 and its role in craniofacial
development: Zebrafish as a model
system for testing dysmorphology
candidate genes.
H. E. Edelman et al.
129 Preconception genome
sequencing and patient choice:
The psychosocial impact of
adverse results.
T. L. Kauffman et al.
106 The C9orf72 repeat expansion
modulates onset age of FTD-ALS
through increased DNA methylation
and transcriptional downregulation.
M. Cruts et al.
114 Mechanistic insights of complex
insertional translocations. S. Gu et al.
122 Cerebro-costo-mandibular
syndrome revisited: Phenotype and
outcome of twenty molecularly
confirmed individuals.
D. C. Lynch et al.
130 Economic impact of genome
sequencing for preconception
carrier screening: The time costs
for genetic counseling.
P. Himes et al.
Thursday, October 8: Concurrent Platform Session C
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 32 – Human-wide
Association Studies: More
Genotypes, More Phenotypes,
More Diverse Populations
Co-Moderators: Ron Do, Icahn
Sch of Med, New York; and
Mariaelisa Graff, UNC Chapel Hill
SESSION 33 – Decoding
Variants in Coding Regions
Co-Moderators: Shamil Sunyaev,
Brigham & Women’s Hosp,
Boston; and Kym Boycott,
Children’s Hospital of Eastern
Ontario, Univ Toronto, Ottawa,
Canada
SESSION 34 – The Real Next
Gen: Reproductive Genetics
Co-Moderators: Urvashi Surti,
Univ Pittsburgh; and Brynn Levy,
Columbia Univ Med Ctr, New
York
SESSION 35 – Genetic
Problems of the Heart, Aorta,
and Valves
Co-Moderators: Elizabeth K.
Speliotes, Univ Michigan, Ann
Arbor; and Tim Assimes, Stanford
Univ Sch Med
5:00 PM
131 Phenome-wide association
study provides biologic insights
into the etiology of age-related
macular degeneration.
M. Brilliant et al.
139 Phased annotation of
protein-coding variants across
60,706 human exomes. A. J. Hill
et al.
147 An important role for rare
155 Mutations in DCHS1 cause
loss-of-function variants in
mitral valve prolapse. D. Milan
spermatogenic failure. R. George et al.
et al.
5:15 PM
132 Complex diseases are
associated with variation in
Mendelian genes: A phenome-wide study using Human
Phenotype Ontology and a
population genotyped on the
Exome BeadChip.
L. A. Bastarache et al.
140 Meta-analysis of more than
2,100 trios reveals novel genes
for intellectual disability.
C. Gilissen et al.
148 Complex mitotic-origin
aneuploidy in human embryos:
Genetic risk factors and fertility
consequences.
R. C. McCoy et al.
156 ROBO-SLIT mutations
predispose individuals to bicuspid
aortic valve with ascending aortic
aneurysm. R. A. Gould et al.
5:30 PM
133 PheWAS study using
research participants’
self-reported data provides
insight into Th17/IL-17 pathway.
M. G. Ehm et al.
141 Assessing the pathogenicity
of insertion and deletion variants
with the Variant Effect Scoring
Tool. C. Douville et al.
149 Expanding non-invasive
prenatal testing to include
microdeletions and segmental
aneuploidy: Cause for concern?
T. Sahoo et al.
157 Genetic, developmental, and
paracrine interactions in the
complex pathogenesis of
heritable aneurysm conditions.
E. Gallo MacFarlane et al.
5:45 PM
134 Functional variant PheWAS
in 30,000 exomes using
EHR-extracted laboratory measures in the Geisinger Health
System MyCode - Regeneron
Genetics Center Collabrative
Project DiscovEHR.
A. Verma et al.
142 Deep genetic connection
between cancer and
developmental diseases.
H. Qi et al.
150 NLRP2:
A paternally-imprinted gene
implicated in innate immunity and
blastocyst development has a
major gene effect on endometriosis. K. Ward et al.
158 Discovery of novel genes
underlying congenital heart
defects driven by analysis of
4,593 exomes from affected
families. A. Sifrim et al.
6:00 PM
135 Exome-wide study identifies
loci displaying pleiotropic associations with multiple
cardiometabolic traits
in continental Africans.
F. Tekola-Ayele et al.
143 Characterizing ribosome
readthrough in humans.
J. Moore et al.
151 Investigation of DNA variants
responsible for pre-eclampsia. R.
McGinnis et al.
159 A rare missense variant in
the B-type natriuretic peptide
gene NPPB is associated with
increased risk for incident heart
failure. P. Salo et al.
6:15 PM
136 Trans-ethnic meta-analysis
reveals novel loci and effector
genes for kidney function in
diverse populations. A. Morris
et al.
144 A comprehensive
methodology for assessing
variant-specific gene dysfunction
in the context of
non-disease-associated
genomes. M. J. Silver et al.
152 Ancestry matched
genome-wide association study
identifies variants associated with
spontaneous preterm birth. M.
Sirota et al.
160 Meta-analysis of exome
chip variants identifies rare and
common variants associated with
electrocardiographic left
ventricular mass.
G. Kosova et al.
6:30 PM
137 How low can you go:
Cohort-wide 1x whole genome
sequencing in a Greek isolate
reveals multiple quantitative trait
signals. A. Gilly et al.
145 A massively parallel pipeline
to clone DNA variants and
examine molecular phenotypes of
human disease mutations. H. Yu.
153 Large scale genome-wide
association study for birth weight
identifies 13 novel loci and
reveals genetic links with a
variety of adult metabolic and
anthropometric traits.
M. Horikoshi et al.
161 Investigating the effects of
coding variants on QT and JT
intervals utilizing data from
95,626 individuals.
N. A. Bihlmeyer et al.
6:45 PM
138 Whole genome sequencing
increase the power to detect
trait-associated rare variants
shifted towards high frequencies
in the Sardinian island
population. C. Sidore et al.
146 Gene discovery in Mendelian
diseases. D. Vuzman et al.
154 Assessing genetic
counsellors’ use of shared
decision-making.
P. H. Birch et al.
162 HUNTing for susceptibility
genes for myocardial infarction
with whole genome sequencing.
C. Willer et al.
5:00 PM–7:00 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd Floor
SESSION 36 – Methods Matter:
Approaches for Genomic Analysis
Co-Moderators: Kees Albers,
Radboud UMC, Nijmegen,
Netherlands; and Melissa Gymrek,
MIT, Cambridge
SESSION 37 – Clinical Genetics:
From Sequence to Mechanism
Co-Moderators: Katrina Dipple,
UCLA; and Helga Toriello, Spectrum
Hlth, Grand Rapids
SESSION 38 – Clinical Impact of
Genetic Variation
Co-Moderators: Marshall Summar,
Children’s Natl Med Ctr, Washington,
DC; and Howard McLeod, Moffitt
Cancer Center, Tampa
SESSION 39 – Mendel and Beyond: Looking through Genome
Sequences
Co-Moderators: Suleyman Gulsuner,
Univ Seattle Genome Sci, Seattle;
and Ashleigh
Schaffer, UC San Diego
163 In silico predictive modelling of
CRISPR/Cas9 guide efficiency. J.
Listgarten et al.
171 A new ciliopathy protein
complex directing assembly of the
IFT machinery is implicated in OFD
syndrome and other ciliopathies.
C. Thauvin-Robinet et al.
179 Genome-wide association study
of olanzapine pharmacokinetics.
K. L. Bigos et al.
187 The search for Mendelian
genes (MG) using whole exome
sequencing (WES): Lessons learned
from analysis of >5,000 cases. N.
Sobreira et al.
164 A novel algorithm for estimating
shared haplotype segments using
rare genetic variants. P. Albers et al.
172 Differential regulation of glucose
homeostasis and β-cell mass in
Bardet-Biedl Syndrome and Alstrom
Syndrome. S. Lodh et al.
180 Concurrent direct human
leukocyte antigen (HLA) genotyping
and genome-wide association study
(GWAS) reveal major genetic
determinants of anti-thyroid
drug-induced agranulocytosis.
P. Chen et al.
188 Discovery of novel dominant and
recessive causes of severe
developmental disorders, in coding
and non-coding sequences.
M. Hurles.
165 PADRE: Pedigree Aware Distant
Relationship Estimation.
J. E. Below et al.
173 Loss-of-function mutations in
IFIH1 predispose to severe viral
respiratory infections in children.
S. Asgari et al.
181 EuDAC: Genome-wide
association study of drug-induced
agranulocytosis in Europe.
M. Wadelius et al.
189 Defining variation sensitive
regions in genes associated with
disease. A. N. Abou Tayoun et al.
166 Haplotype phasing using
cluster graphs. D. C. Aguiar et al.
174 A novel
(epi)genotype-specific and histotype-targeted tumor surveillance
protocol in Beckwith-Wiedemann
Syndrome based on cancer data
meta-analysis. A. Mussa et al.
182 The impact of genetics on drug
efficacy and implications for future
research. M. R. Nelson et al.
190 Individual clinical variation,
beyond monogenic disease: The
aggregation of pathogenic
variant alleles in a personal genome.
J. E. Posey et al.
167 Fine-mapping cellular trait QTLs
with RASQUAL and ATAC-seq.
N. Kumasaka et al.
175 A recurrent mosaic mutation of
SMO (Smoothened) causes Curry-Jones syndrome. S. R. F. Twigg
et al.
183 Regulatory variants other than
VKORC1 -1639 G>A may explain the
effect on warfarin dose. M. Cavalli
et al.
191 99 Lives Cat Genome
Sequencing Initiative:
Discovery of feline models for human
diseases - every life counts. L. A.
Lyons et al.
168 A phenotype-aware approach
to the prioritization of coding and
non-coding rare disease variants. D.
Smedley et al.
176 The genetics of emphysema:
Mutations in telomere genes uncover
a distinct genetic etiology and
common mechanism for
pathogenesis. S. E. Stanley et al.
184 Assessing the clinical impact of
ethnicity-specific pharmacogenetic
allele variation in over 100,000 patients with biobank-linked electronic
medical records. N. Gonzaludo et
al.
192 Post-zygotic point mutations are
an underrecognized source of novel
genomic variation.
R. Acuna-Hidalgo et al.
169 Subclonal hierarchy inference
from somatic mutations: Automatic
reconstruction of cancer evolutionary
trees from multi-region next
generation sequencing.
N. Niknafs et al.
177 High frequency of VACTERL
association in Fanconi Anemia.
B. P. Alter et al.
185 Efficacy of whole genome
sequencing over a lifetime: Medically
actionable genomic mutations in 300
patients. M. He et al.
193 The hunt for rare disease
diagnosis: Utilization of social media,
model organisms, and pathway
analysis in pediatric exome
sequencing. A. I. Nesbitt et al.
170 A powerful new method based
on mutual information to simultaneously test for additive, dominance,
and interaction effects.
A. I. Young et al.
178 De novo deletions and truncating mutations in USP9X cause
a recognizable ID syndrome with
multiple congenital abnormalities in
females. M. R. F. Reijnders et al.
186 Genetic variation in STAT4
predicts response to interferon-α
therapy for HBeAg-positive chronic
hepatitis B. D. Jiang et al.
194 Improving diagnosis and
furthering gene discovery through
recruitment of clinical whole exome
sequencing cases into research.
Z. H. Coban Akdemir et al.
Friday, October 9
8:45 AM–9:00 AM
Friday, October 9
9:45 AM–10:00 AM
40. Gruber Genetics Prize Award Presentation and
Rosalind Franklin Award Announcement
43. ASHG Victor A. McKusick Leadership Award
Presentation
The Gruber Genetics Prize is awarded annually by The Gruber Foundation to a leading scientist, or up to three, in recognition of groundbreaking
contributions to any realm of genetics research. The recipients will be
presented with a gold laureate pin and will share the $500,000 unrestricted
cash award. The Gruber lecture, “CRISPR-Cas9 Genome Editing: Origins
and Development of a Revolutionary Technology,” will be given on Friday,
October 9 from 1:00-1:45 pm in Ballroom I/II, Level 4 of the Baltimore
Convention Center.
The ASHG Victor A. McKusick Leadership Award recognizes individuals
whose professional achievements have fostered and enriched the
development of human genetics as well as its assimilation into the broader
context of science, medicine, and health.
Hall F, Level 1, Convention Center
Co-Recipients:
Emmanuelle Charpentier, PhD, Helmholtz Centre for Infection Research in
Braunschweig, Germany
Jennifer Doudna, PhD, of the University of California, Berkeley, CA
Friday, October 9
9:00 AM–9:30 AM
41. ASHG William Allan Award Presentation
Hall F, Level 1, Convention Center
The ASHG William Allan Award recognizes a scientist for substantial and
far-reaching scientific contributions to human genetics. It was established in
1961 in memory of William Allan, MD (1881-1943), one of the first American
physicians to conduct extensive research on human genetics and hereditary
diseases.
Introduction: Gene S. Fisch, CUNY/Baruch College
Recipient:
Kay E. Davies, DPhil
Dr. Lee’s Professor of Anatomy, Department of Physiology, Anatomy and
Genetics, and Associate Head of the Medical Sciences Division
Director of the Medical Research Council Functional Genomics Unit,
University of Oxford, UK
Friday, October 9
9:30 AM–9:45 AM
42. The ASHG Arno Motulsky-Barton Childs Award for
Excellence in Human Genetics Education
Hall F, Level 1, Convention Center
The ASHG Award for Excellence in Human Genetics Education was
established to recognize those who have made significant contributions
of exceptional quality and great importance to human genetics education.
Individually and together, each of this year’s three recipients is an
accomplished geneticist and educator. Over the years, they have taught
regularly as well as run their own laboratories, and have been involved in
program development and/or mentoring at various levels.
Recipients:
Robert L. Nussbaum, MD
Chief Medical Officer, Invitae
Clinical Professor of Medicine (Volunteer), University of California, San
Francisco
Roderick R. McInnes, CM, MD, PhD
Director of the Lady Davis Institute at the Jewish General Hospital and Alva
Chair in Human Genetics, Canada
Research Chair in Neurogenetics, and Professor of Human Genetics and
Biochemistry
McGill University, Montreal, Canada
Huntington F. Willard, PhD
President and Director, Marine Biological Laboratory, Woods Hole
Professor of Human Genetics, University of Chicago
Hall F, Level 1, Convention Center
Introduction: David Valle, Johns Hopkins University
Recipient:
Charles Scriver, MD
Alva Professor Emeritus of Human Genetics, and Professor of Pediatrics,
Biochemistry (Associate), Biology (Honorary), and Human Genetics at
McGill University, Montreal, Canada
Friday, October 9
10:00 AM–10:15 AM
44. ASHG Curt Stern Award Presentation
Hall F, Level 1, Convention Center
The ASHG Curt Stern Award recognizes genetics and genomics researchers
who have made significant scientific contributions during the past decade.
Introduction: Elaine Ostrander, NHGRI
Recipient:
Leonid Kruglyak, PhD
Professor of Human Genetics and Professor of Biological Chemistry, University of California, Los Angeles
Investigator, Howard Hughes Medical Institute
Friday, October 9
10:15 AM–10:30 AM
45. ASHG Advocacy Award Presentation
Hall F, Level 1, Convention Center
The ASHG Advocacy Award, new in 2015, honors individuals or groups who
have exhibited excellence and achievement in applications of human
genetics for the common good, in areas such as facilitating public
awareness of genetics issues, promoting funding for biomedical research,
and integrating genetics into health systems.
Introduction: Michael Watson, Executive Director, American College of
Medical Genetics and Genomics
Recipient:
R. Rodney Howell, MD
Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics,
and Member of the Hussman Institute for Human Genomics
University of Miami Leonard M. Miller School of Medicine
Enjoying the meeting?
Become a
Member of
You already know ASHG members pay reduced fees for the Annual Meeting. But did you
know members also receive these benefits year-round?
•
•
•
•
•
•
•
•
•
Subscription to The American Journal of Human Genetics
No page charges for publication in AJHG
Access to invited session videos and platform session slides from past Annual Meetings
Career resources and opportunities
Access to member-only networking tools and events
Influence on public policy issues
Leadership and service opportunities
Eligibility for ASHG awards
Discounted subscriptions to 20+ other journals
Already a member of ESHG? Save 20%
on ASHG membership when you join
both Societies.
Are you a geneticist for life? Save 10%
on multi-year ASHG memberships and
avoid the hassle of renewing.
Stop by ASHG Central to learn more!
Questions?
Contact us at 301-634-7300 or email membership@ashg.org
www.ashg.org/join
Membership applicaons for 2016 will be available in November.
Friday, October 9: Concurrent Platform Session D
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 46 – Hen's Teeth?
Rare Variants and Common
Disease
Co-Moderators: Mingyao Li, Univ
Penn, Philadelphia; and Jason
Flannick, Broad Inst, Boston
SSESSION 47 – The Zen of
Gene and Variant
Assessment
Co-Moderators: Shashikant
Kulkarni, Washington Univ, St.
Louis; and Yaping Yang, Baylor
Col of Med, Houston
SESSION 48 – New Genes and
Mechanisms in
Developmental Disorders and
Intellectual Disabilities
Co-Moderators: Donna Martin,
Univ Michigan, Ann Arbor; and
Heather C. Mefford, Univ
Washington, Seattle
SESSION 49 – Statistical
Genetics: Networks, Pathways,
and Expression
Co-Moderators: Dajiang Liu,
Penn State Univ, Hershey; and
Brooke Fridley, Univ Kansas Med
Ctr, Kansas City
2:15 PM
195 Rare variants are a large
source of heritability for gene
expression patterns.
R. Hernandez et al.
203 Allele frequency distribution
of pathogenic sequence variants
in ExAC and the implications for
clinical genetic testing.
Y. Kobayashi et al.
211 Biallelic loss of human
CTNNA2, encoding α-N-catenin,
links ARP2/3-mediated actin
regulation to neuronal migration.
A. E. Schaffer et al.
219 A pathway-centric approach
to rare variant association
analysis. T. G. Richardson et al.
2:30PM
196 Haplotypes of common
SNPs explain a large fraction of
the missing heritability of complex
traits. G. Bhatia et al.
204 Classifying variants detected
by whole genome sequencing of
a healthy population: The good,
the bad, and the ugly.
S. Punj et al.
212 Missense mutations in the
middle domain of DNM1L cause
infantile encephalopathy in
humans and peroxisomal and
mitochondrial defects in
Drosophila and humans.
L. Robak et al.
220 PolyTest: A novel method
for joint analysis of genome-wide
association studies and functional
annotations. D. Golan et al.
2:45 PM
197 Estimating the respective
contributions of human and viral
genetic variation to HIV control.
I. Bartha et al.
205 Exploring the landscape of
pathogenic genetic variation in
the ExAC population database:
Insights of relevance to variant
classification. S. Gardner et al.
213 Mosaic and constitutional
mutations of MTOR cause a
spectrum of developmental brain
disorders from focal cortical
dysplasia to diffuse
megalencephaly. G. Mirzaa et al.
221 Sex-specific gene
co-expression networks. B. E.
Engelhardt et al.
3:00 PM
198 Rare and
low-frequency coding variants
contribute independently to
human stature variation.
M. C. Medina Gomez et al.
206 Assessing the clinical validity
of genes implicated in hereditary
pheochromocytoma/
paraganglioma and pancreatic
cancer using the ClinGen
framework. R. Ghosh et al.
214 MTIF2 mutations cause a
novel disorder of mitochondrial
translation. S. B. Pierce et al.
222 Detection of master
regulatory SNPs in expression
and methylation quantitative trait
loci studies. J. Shi et al.
3:15 PM
199 Imputation of rare
variants from the new Haplotype
Reference Consortium identifies
associations missed by 1000
Genomes. A. R. Wood et al.
207 Assessment of Mendelian
disorders among three Bronx,
New York populations using
ACMG criteria. G. diSibio et al.
215 Overexpression of the
chromosome 21 gene ATP5O
results in enteric
hypoganglionosis: The missing
link between Down Syndrome
and Hirschsprung disease?
R. K. Chauhan et al.
223 Proper use of allele-specific
expression improves statistical
power for cis-eQTL mapping with
RNA-seq data. Y. J. Hu et al.
3:30 PM
200 Imputing genotypes of the
Haplotype Reference Consortium
into the haplotypes of a large
case control study of age-related
macular degeneration. L. G.
Fritsche et al.
208 Frequency of cardiovascular
secondary findings on
whole-exome sequencing and
utilization in familial testing. R.
Tousignant et al.
216 Mutations in PPP2R5D are a
novel cause of intellectual
disability, macrocephaly,
ypotonia, and autism.
L. B. Henderson et al.
224 Tensor decomposition
uncovers trans eQTL networks in
the multi-tissue EuroBATS study.
J. Marchini et al.
3:45 PM
201 Whole-genome sequencing
and genotype imputation across
35,000 individuals further defines
the genetic architecture of
inflammatory bowel disease. C.
A. Anderson.
209 Homozygous and compound
heterozygous mutations in FBN1,
unusual situations in molecular
diagnosis of Marfan syndrome. P.
Arnaud et al.
217 To elucidate the genetic of
recessive cognitive disorders:
104 novel genes identified using
deep sequencing. H. Najmabadi
et al.
225 Integrative genome-wide
gene expression and
metabolomics networks in
pregnant women identify Vitamin
D variants associated with
incident preeclampsia cases. J.
Lasky-Su et al.
4:00 PM
202 The next wave of autism
gene discovery by targeted
sequencing of thousands of
patients. H. Stessman et al.
210 Clinician perspectives on
inconclusive genetic test results
for osteogenesis imperfecta in
children with unexplained
fractures: Are families at risk if
they engage in parental testing
for VUS? E. Youngblom et al.
218 Variants in TAF1 are
associated with a new syndrome
with severe intellectual disability
and characteristic dysmorphic
features. G. J. Lyon et al.
226 Are genetic interactions
influencing gene expression in
humans evidence for biological
epistasis or statistical artifacts?
A. Fish et al.
2:15 PM–4:15 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd
Floor
SESSION 50 – Going Platinum:
Building a Better Genome
Co-Moderators: Deanna Church,
Personalis, Inc, Menlo Park; and
Fiona Cunningham, EMBL-EBI
Wellcome Trust
SESSION 51 – Cancer Genetic
Mechanisms
Co-Moderators: Marc Greenblatt,
Univ Vermont, Burlington; and Raju
Kucherlapati, Brigham and Women’s
Hosp, Cambridge
SESSION 52 – Target Practice:
Therapy for Genetic Diseases
Co-Moderators: Joseph Shieh, UCSF;
and Ken Huttner, Novartis, Cambridge
SESSION 53 – The Real World:
Translating Sequencing into
the Clinic
Co-Moderators: Joon-Ho Yu,
Univ Washington, Seattle; and
Jen McCormick, Mayo Clinic,
Rochester
227 Building a platinum assembly
from single haplotype human
genomes generated from long molecule sequencing. K. Meltz Steinberg
et al.
235 Integrative analysis of five cancer
GWAS meta-analyses with eQTLs
and splice QTLs from relevant normal
tissues in GTEx proposes causal
regulatory processes and genes for
cancer risk. A. V. Segrè et al.
243 Towards personalized cellular
adoptive immunotherapy targeting
tumor specific neo-antigens in
microsatellite unstable colorectal
cancers. P. Maby et al.
251 A large-scale survey
conducted by the eMERGE
Network of patient perspectives
on broad consent and data
sharing in biospecimen research.
M. E. Smith et al.
228 Building a better human genome
reference and targeting structure
using single molecule technologies. R.
Sebra et al.
236 Mutations in a promoter of APC
cause a syndrome of gastric
adenocarcinoma and proximal
polyposis of the stomach (GAPPS)
without colorectal involvement.
G. Chenevix-Trench et al.
244 Functional correction of dwarfism
in a mouse model of achondroplasia
using the tyrosine kinase inhibitor
NVP-BGJ398. D. Komla Ebri et al.
252 Adolescents’ opinions on
disclosure of non-actionable
secondary findings in whole
exome sequencing.
S. B. Hufnagel et al.
229 Genome in a bottle: You may
have sequenced, but how well did you
do? J. M. Zook et al.
237 TNS1 mutations and gastrointestinal stromal tumors and defective
mitochondria in the blistery (Tns1
knockout)
D. melanogaster. F. Faucz et al.
245 Potential AAV5 gene therapy for
MPS IIIB mice brain. S. H. Kan et al.
253 Responses of primary
care physicians to unsolicited
secondary findings about Lynch
Syndrome. K. D. Christensen
et al.
230 An accurate read mapper for
graph genomes. W. Lee et al.
238 Exome sequencing provides
evidence of pathogenicity for genes
implicated in the development of
colorectal cancer.
E. A. Rosenthal et al.
246 Quantitative cell image-based
high content screening identifies
brain permeable small molecules that
rescue peroxisome assembly defects
in cells from patients with Zellweger
spectrum disorder. N. Huang et al.
254 The return of whole exome
sequencing results in a pediatric
cancer setting: What is being
said? S. Scollon et al.
231 Anchored pseudo-de novo
assembly of human genomes identifies extensive sequence variation
in unmapped sequence reads. K. H.
Brown et al.
239 Recurrent acquisition of super
enhancer function drives druggable
oncogenic expression programs in
colorectal cancer. A. J. Cohen et al.
247 The Fibrodysplasia Ossificans
Progressiva mutation ACVR1R206H
causes disease by allowing the receptor ACVR1 to respond to Activin A. A.
N. Economides et al.
255 Communication and
management of genomic s
equencing results by
non-geneticist physicians. J.
Krier et al.
232 A diploid personal human genome
reference from diverse sequence
data: A model for better genomes. K.
C. Worley et al.
240 Genomic landscape of
colorectal tumors shapes the
microbiome of the tumor
microenvironment. R. Blekhman et
al.
248 Necroptosis in Niemann-Pick
Disease, type C1: A potential
therapeutic target. A. C. Cougnoux
et al.
256 Impact of genome
sequencing on the medical care
of healthy adults. J. L. Vassy
et al.
233 Genome-wide copy number
detection using a hybrid clinical NGS
assay. J. Harris et al.
241 PRKACA defects and adrenal
tumors: Human and animal studies
and gene dosage effects. P. Salpea
et al.
249 Clinical, molecular, and
metabolomic studies reveal targets
for therapy and new mechanisms
of pathology in Barth Syndrome. H.
Vernon et al.
257 Short-term costs of
integrating genome sequencing
into clinical care: Preliminary
results from the MedSeq Project.
K. Christensen et al.
234 A reference panel of common
CNVs and SVs identified from high
depth sequencing data on over 2000
samples of European ancestry. M. A.
Bekritsky et al.
242 CLIC5: A new transcriptional
target of ETV6 in childhood acute
lymphoblastic leukemia. B. Neveu
et al.
250 Modulating ryanodine receptors
by dantrolene attenuated neuropathic
phenotype in Gaucher Disease mice.
B. Liou et al.
258 Incorporation of whole
genome sequencing results into
the electronic medical record:
Attitudes of MedSeq Project
participants. C. L. Blout et al.
Friday, October 9: Concurrent Platform Session E
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 54 – Changing
Landscape of Genomic Testing
Co-Moderators: Lora Bean,
Emory Univ, Atlanta; and Belinda
Chong, VCGS, MCRI, Parkville,
Australia
SESSION 55 – Making
Connections: From DNA
Looping to eQTLs and
Tissue-specific Regulation
Co-Moderators: Nadav Ahituv,
UCSF; and Tony Capra,
Vanderbilt Univ, Nashville
SESSION 56 – Novel Genes,
Novel Regulators, and
Monogenic Diseases
Co-Moderators: Ozge Birsoy,
Partners Healthcare, Brigham
and Women’s Hosp of Mass
Gen Hosp, Cambridge; and Ayse
Begum Tekinay, Bilkent Univ,
Ankare, Turkey
SESSION 57 – New Thoughts
about Neurodevelopment and
Intellectual Disability
Co-Moderators: Lauren Weiss,
UCSF; and Michael Gambello,
Emory Univ, Atlanta
4:30 PM
259 Contributions of "healthy
genomes" to expand our
understanding of Mendelian
conditions. D. L. Perry et al.
267 Extremely high resolution
3D maps of human and mouse
genomes across lineages and
during differentiation reveal
principles of chromatin looping.
S. Rao et al.
275 Identification of major genetic 283 Identification of RCBTB1 as
modifiers of vascular disease in
novel disease gene for retinal
Marfan Syndrome mice.
ciliopathy. F. Coppieters et al.
A. Doyle et al.
4:45 PM
260 Large scale analysis of
interracial differences in genetic
polymorphisms of CYP2C9,
CYP2C19, CYP2D6, CYP3A4,
and CYP3A5 in the U.S.
population. H. Yao et al.
268 Identifying the transcription
factors mediating
enhancer–target gene regulation
in the human genome.
Y.-C. Hwang et al.
276 Novel genetic modifiers of
retinitis pigmentosa identified
by exploiting natural variation in
Drosophila. C. Y. Chow et al.
284 The INVESTICATE
project: Identification of New
Variation, Establishment of Stem
cells, and Tissue Collection
Advancing Treatment Efforts.
C. Ernst et al.
5:00 PM
261 Protein truncating mutations
in the ARID2 gene are associated
with a novel neurodevelopmental
disorder. B. E. Friedman et al.
269 Cell-free DNA comprises an
in vivo nucleosome footprint that
informs its tissue(s)-of-origin.
M. W. Snyder et al.
277 Identification of a novel
mutation for Perrault syndrome in
the mitochondrial rRNA
chaperone ERAL1.
A. S. Plomp et al.
285 The Koolen-de Vries
syndrome: A phenotypic
comparison of microdeletion and
point mutation patients.
D. A. Koolen et al.
5:15 PM
262 Molecular diagnoses of acute
hepatic porphyrias: Comparisons
of mutation positive results for
various physician specialties. H.
Naik et al.
270 Discovery of dendritic cell
sub-populations in human blood
by single cell RNA-sequencing.
A. C. Villani et al.
278 The molecular pathology of
a large cohort of individuals with
inherited retinal disease,
determined through whole
genome sequencing.
K. J. Carss et al.
286 Exome sequencing suggests
Aicardi Syndrome is genetically
heterogeneous and not exclusive
to females. I. Schrauwen et al.
5:30 PM
263 Utility of whole genome
sequencing for detection of
newborn screening disorders
in a population cohort of 1696
neonates. D. L. Bodian et al.
271 Mapping expression
quantitative trait loci to identify
insulin resistance, obesity, and
Type 2 diabetes genes in
African Americans. S. Das et al.
279 Vibration-induced urticaria
due to aberrant mast cell
degranulation caused by a
mutation in ADGRE2.
S. E. Boyden et al.
287 Targeted sequencing of 15
genes in a cohort of 169 patients
with unexplained lissencephaly
detects mutations in 37% of
patients. N. Di Donato et al.
5:45 PM
264 Diagnostic utility of whole
genome sequencing as an
alternative to chromosomal
microarray analysis in pediatric
medicine. D. J. Stavropoulos
et al.
272 Inferring causal relationships
between gene expression and
complex traits using Mendelian
randomization (MR). Y. Park et
al.
280 Mutations in the unfolded
protein response regulator ATF6
cause the cone dysfunction
disorder achrom. S. Kohl et al.
288 Integration of functional
“omics” data uncovers
mitochondrial deficiency in
Smith-Magenis syndrome. J. T.
Alaimo et al.
6:00 PM
265 Panel testing for familial
breast cancer: Tension at the
boundary of research and clinical
care. I. Campbell et al.
273 Detection and interpretation
of genome structural variation in
GTEx samples. C. Chiang et al.
281 Mutations in the MET
proto-oncogene cause
osteofibrous dysplasia and alter
the regulation of periosteal
osteogenesis. C. A. Wise et al.
289 Mutations in DDX3X are a
common cause of
unexplained intellectual disability
with gender-specific effects on
Wnt signaling. L. Snijders Blok
et al.
6:15 PM
266 Yield of pathogenic/likely
pathogenic variants in women
with breast cancer undergoing
hereditary cancer panel testing.
L. M. Andolina et al.
274 Mapping genetic and
epigenetic factors influencing
human hippocampal gene
expression. P. Hoffmann et al.
282 MIPEP mutations cause
autosomal recessive
mitochondrial dysfunction with
left ventricular non-compaction,
hypotonia, and infantile death. M.
K. Eldomery et al.
290 Mutations in TKT gene are a
novel cause of short
stature, developmental delay, and
congenital heart defects. A. H.
Begtrup et al.
4:30 PM–6:30 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd
Floor
SESSION 58 – Schizophrenia and
Brain Development
Co-Moderators: Loyal Goff, Johns
Hopkins Univ, Baltimore; and Karyn
Meltz Steinberg, Washington Univ
Genome Ctr, St. Louis
SESSION 59 – Metabolic Traits and
Disease: Discovery and Function
Co-Moderators: Karen Mohlke, UNC
Chapel Hill; and Damien
Croteau-Chonka, Brigham and
Women’s Hosp, Boston
SESSION 60 – The Ins and Outs of
Blood Vessel Diseases
Co-Moderators: Kiran Musunuru,
Harvard Univ, Cambridge; and Patricia
B. Munroe, Queen Mary Univ, London,
UK
SESSION 61 – From Here to
There: Reconstructing Human
History
Co-Moderators: Timothy O’Connor, Univ Maryland and Inst for
Genome Sci, Baltimore; and
Brenna Henn, Stony Brook Univ
291 Deciphering phenotypic
variability of genomic disorders using
the 16p11.2 syndromes as a
paradigm. K. Männik et al.
299 Large-scale exome chip association analysis identifies novel type 2
diabetes susceptibility loci and highlights candidate effector genes.
A. Mahajan.
307 Genetic study identifies common
variation in PHACTR1 to associate
with fibromuscular dysplasia.
N. Bouatia-Naji et al.
315 Analysis of more than
800,000 genotypes from
individuals born in the United
States reveals trends in
increasing genetic diversity
during the 20th century.
A. R. Kermany et al.
292 Modeling microcephaly using
DNA repair defective induced
pluripotent stem cells and cerebral
organoids. F. Pirozzi et al.
300 Large scale exome array
meta-analyses identify numerous
novel common, low-frequency, and
rare coding variant associations with
glycaemia. S. Willems.
308 A rare synonymous variant in
GFI1B associated with lower platelet
counts reveals a role for alternative
GFI1B splice forms in human
hematopoiesis. P. Auer et al.
316 Reconstructing the
population history of New York
City. G. M. Belbin et al.
293 3q29 deletion syndrome is
associated with feeding problems,
reduced birth weight, and a range of
neuropsychiatric phenotypes: Results
from the 3q29 registry.
J. G. Mulle et al.
301 Causal mechanisms and
balancing selection inferred from
genetic associations with polycystic
ovary syndrome. F. Day et al.
309 Meta-analysis of rare and
common exome chip variants identifies and replicates S1PR4 and other
novel genes influencing blood cell
traits.
N. Pankratz.
317 Inference of
super-exponential human
population growth via efficient
computation of the site frequency
spectrum for generalized
models. F. Gao et al.
294 Schizophrenia risk gene MIR137
modulates neurodevelopment and
behavior. Y. Cheng et al.
302 Genetic contributions to long-term
severe obesity and leanness defined
by electronic medical record
phenotyping: A genome-wide
association study.
C. Schurmann et al.
310 Parent of origin genome-wide
association studies (GWAS) of
cardiovascular disease (CVD)
associated phenotypes in the
Hutterites. S. V. Mozaffari et al.
318 Genome-wide data on 34
ancient Anatolians identifies the
founding population of the
European Neolithic.
I. Lazaridis et al.
295 A meta-analysis of >16,000
exomes reveals a dominant, highly
penetrant subtype of schizophrenia
comorbid with intellectual disability.
T. Singh et al.
303 Integrative personal' omics
profiling during periods of disease,
weight gain, and loss.
M. Snyder et al.
311 Rare genetic variants inform
blood pressure pathophysiology. P.
Surendran et al.
319 The evolutionary impact of
Denisovan ancestry in
Australo-Melanesians.
S. Sankararaman et al.
296 Schizophrenia associated
variation in DPYSL2 perturbs mTOR
signaling and produces cellular
phenotypes. X. Pham et al.
304 Causal FTO obesity variant
represses adipocyte browning in
humans. M. Kellis.
312 Meta-analysis of gene-smoking
interactions in blood pressure using
1000 Genomes imputed data from
four ethnic groups. Y. Sung et al.
320 IBD sharing in the 1000
Genomes Project Phase 3 data
reveals relationships from
Neanderthals to present day
families. G. Povysil et al.
297 Somatic mutations in the MTOR
gene cause focal cortical dysplasia
type IIb. M. Nakashima et al.
305 ExomeChip meta-analysis of
526,508 individuals from five
ancestries identifies novel coding
variation associated with body mass
index. H. M. Highland et al.
313 Genome-wide study for blood
metabolites identifies 62 loci and
connects LPA with lipoprotein
metabolism from a new perspective.
J. Kettunen.
321 Computational
reconstruction of a haploid
genome from the 18th century.
A. Jagadeesan et al.
298 Interrogating the mechanisms of
schizophrenia genetic risk in the fully
characterized human brain
transcriptome. A. E. Jaffe et al.
306 Clustering of exome variants from
6272 individuals with Type 2 diabetes
identifies etiological convergence
amongst four distinct populations and
with other T2D genetic risk factors.
C. Sandor et al.
314 Characterisation of the metabolic
impact of rare genetic variation within
APOC3: Proton NMR based analysis
of rare variant gene effects.
L. Corbin et al.
322 Polly: A novel approach for
estimating local and global
admixture proportion based on
rich haplotype models.
K. Noto et al.
Friday, October 9
6:30 PM–6:35 PM
Saturday, October 10
8:55 AM–10:15 AM
62. C.W. Cotterman Awards Announcement
65. Featured Plenary Abstract Session II
Ballroom I, Level 4, Convention Center
Each September, the editorial board of The American Journal of Human
Genetics selects two articles that best represent outstanding contributions
to the field of genetics. The two awards are presented for the best papers
published in AJHG during the previous year on which the first author was
either a pre- or postdoctoral trainee and is an ASHG member. The awards
will be presented with a monetary award and plaque.
Friday, October 9
6:35 PM–6:40 PM
63. Announcement of the Finalists for the Charles
J. Epstein Trainee Awards for Excellence in Human
Genetics Research
Ballroom I, Level 4, Convention Center
Hall F, Level 1, Convention Center
323/8:55
An integrative model for predicting the regulatory
impact of rare non-coding variants on the human
transcriptome. Y. Kim, X. Lee, F. Damani, Z. Zappala, J.
Davis, E. Tsang, S. B. Montgomery, A. J. Battle, The GTEx
Consortium.
324/9:15
Genetic and epigenetic factors affecting regulatory
elements underlie lactose intolerance and lactase persistence. R. Jeremian, V. Labrie, O. Buske, E. Oh, C. Ptak,
G. Gasiunas, A. Maleckas, R. Petereit, A. Zvirbliene, K. Adamonis, E. Kriukienė, K. Koncevicius, J. Gordevičius, A. Nair,
A. Zhang, S. Ebrahimi, G. Oh, V. Siksnys, L. Kupcinskas, M.
Brudno, A. Petronis.
325/9:35
Characterizing de novo balanced cytogenetic abnormalities through sequencing in 147 subjects with multiple
congenital anomalies. C. Redin, H. Brand, R. L. Collins,
V. Pillalamarri, C. Hanscom, T. Kammin, S. Pereira, B. B.
Currall, Z. Ordulu, S. Althari, J. Shen, A. Ragavendran, E. C.
Liao, E. Mitchell, J. C. Hodge, C. C. Morton, J. F. Gusella,
M. E. Talkowski.
326/9:55
Adipose- and maternal- specific regulatory variants
at KLF14 influence Type 2 Diabetes risk in women via
a female-specific effect on adipocyte physiology and
body composition. K. Small, M. Todorcevic, M. Civelek,
J. El-Sayed Moustafa, A. Mahajan, M. Horikoshi, A. Hough,
C. Glastonbury, G. Thorleifsson, L. Quaye, J. Fernandez,
A. Buil, A. Vinuela, M. Yon, M. Simon, S. Sethi, J. Bell, B.
Sharifi, U, Thorsteinsdottir, A. L. Gloyn, R. Cox, A. Lusis, F.
Karpe, M. McCarthy.
ASHG provides merit-based research awards for trainees (predoctoral and
postdoctoral, including genetic counseling trainees) on the basis of submitted, competitive abstracts and on-site presentations at the 2015 Annual
Meeting. This year’s 18 finalists will be acknowledged during the ASHG
Policy Forum and Business Meeting.
Friday, October 9
6:40 PM–7:30 PM
64. ASHG Policy Forum and Business Meeting
Ballroom I, Level 4, Convention Center
ASHG Policy Forum: The ASHG Social Issues Committee will review a
draft positon statement on the ethical and policy implications of CRISPR-Cas9 technology and genome editing. The committee will solicit feedback and discussion from attendees.
ASHG Membership/Business Meeting: The ASHG Board of Directors and
committee chairs will present reports highlighting current Society business,
including finances. This is an opportunity for members to learn about recent
ASHG activities and to provide suggestions to the Society’s leadership.
There will be a moment of silence for those members and colleagues we
have lost since the 2014 Business Meeting. We encourage discussion from
the floor.
Saturday, October 10: Concurrent Platform Session F
TIME
Ballroom I, Level 4
Ballroom III, Level 4
Room 307, Level 3
Room 309, Level 3
SESSION 66 – Computing
Functional Variants
Co-Moderators: Xiaoquan Wen,
Univ Michigan, Ann Arbor; and
Chiara Sabatti, Stanford Univ
SESSION 67 – Opening Up Big
Data
Co-Moderators: Joe Pickrell, New
York Genome Ctr; and Joanna
Mountain, 23andMe, Inc,
Mountain View
SESSION 68 – Statistical
Genetics: Analyze Family-wise
Co-Moderators: John Witte,
UCSF; and Yun Ju Sung,
Washington Univ, St. Louis
SESSION 69 – The Causes and
Consequences of Evolutionary
Change
Co-Moderators: Kirk Lohmueller,
UCLA; and Sohini
Ramachandran, Brown Univ,
Providence
10:30 AM
327 Single variant resolution
association mapping of
inflammatory bowel disease loci.
H. Huang et al.
335 DNA.Land: A
community-wide platform to
collect millions of
genomes-phenomes.
Y. Erlich et al.
343 Leveraging variant
prioritization information in de
novo mutation analysis to identify
novel autism candidate genes.
C. D. Huff et al.
351 Combined analysis of over
60,000 exomes: Genic constraint,
widespread mutational
recurrence, and impact on clinical
variant interpretation.
D. MacArthur.
10:45 AM
328 Genome sequencing of
autism families reveals disruption
in non-coding regulatory DNA. T.
N. Turner et al.
336 The European Variation
Archive: Integrating open-access
variation datasets.
G. I. Saunders et al.
344 SimDenovo: A simulation
toolkit to understand the
variability in de novo mutation
burden in human disease.
V. Aggarwala et al.
352 Population differentiation
analysis of 54,734 European
Americans reveals
independent evolution of ADH1B
gene in Europe and East Asia.
K. J. Galinsky et al.
11:00 AM
329 Fine mapping of psoriasis
susceptibility loci: Enrichment of
pro-inflammatory genomic marks
in lymphocytes and
keratinocytes. L. C. Tsoi et al.
337 The Monarch Initiative:
An open science integrated
genotype-phenotype platform
for disease and model organism
discovery. M. A. Haendel et al.
345 Relationship inference in
big genetic data with >100,000
samples. W.-M. Chen et al.
353 A direct estimate for the
human mutation rate from
autozygous sequences in
thousands of parentally related
pedigrees. V. Narasimhan et al.
11:15 AM
330 Colocalization of eQTLs at
WHRadjBMI GWAS loci with
multiple association signals
highlighted candidate functional
genes for body fat distribution.
Y. Wu et al.
338 iCLiKVAL: An open-access
346 Mixed model association
tool for adding value to scientific
with family-biased case-control
literature one annotation at a time ascertainment. T. Hayeck et al.
through the power of
crowdsourcing. T. D. Taylor et al.
354 Leveraging distant
relatedness to quantify human
mutation and gene conversion
rates. P. Palamara et al.
11:30 AM
331 Fine-mapping GWAS loci
containing extensive allelic
heterogeneity reveals complex
patterns of association.
C. N. Spracklen et al.
339 A practical guide to drug
discovery through phenome-wide
association studies.
F. Sathirapongsasuti et al.
347 Dissecting a major linkage
signal to identify potential causal
variants for serum triglycerides in
a founder population.
W.-C. Hsueh et al.
355 Genetic diversity on the
human X chromosome suggests
there is no single
pseudoautosomal boundary.
M. Wilson Sayres et al.
11:45 AM
332 Connecting the regulatory
dots at the GWAS discovery
phase. A. Madar et al.
340 The Human Phenotype
Ontology: Semantic unification of
common and rare disease.
P. Robinson et al.
348 Systematic and large-scale
investigation of twin and sibling
concordance of 1723 traits in a
nationally representative health
claims cohort.
C. M. Lakhani et al.
356 Comparative epigenomic
analysis of regulatory elements in
primate stem cells.
I. Narvaiza et al.
12:00 PM
333 Identifying critical cell types
in complex traits from purified
and single-cell expression using
a polygenic model.
D. Calderon et al.
341 Imputation in the cloud:
Lessons learned and future
directions. C. Fuchsberger et al.
349 Heritability estimates for
thirty-four traits in a large Ugandan cohort. D. Heckerman et al.
357 Transcriptome diversity
associated with ancestry and diet
in ethnically diverse East African
populations.
N. G. Crawford et al.
12:15 PM
334 Integrating genome-wide
association and co-expression
network data for novel gene
discovery. C. R. Farber et al.
342 LARVA: An integrative
framework for Large-scale
Analysis of Recurrent Variants in
noncoding Annotations.
M. Gerstein et al.
350 Leveraging whole genome
sequencing in an internal
study-specific imputation
reference panel for family-based
designs. K. Iyer et al.
358 High-coverage RNA
sequencing reveals substantial
variation associated with
geography, environment, and
endophenotypic variation.
M.J. Fave et al.
10:30 AM–12:30 PM
Room 316, Level 3
Room 318/321, Level 3
Holiday Ballroom 1, 2nd Floor
Holiday Ballroom 4, 2nd
Floor
SESSION 70 – Precision Cancer
Sequencing
Co-Moderators: Michael Talkowski,
Harvard Med Sch, Cambridge; and
Vivian Cheung, Univ of Michigan, Ann
Arbor
SESSION 71 – New Insights in Gene
Regulation
Co-Moderators: Karen Mohlke, UNC
Chapel Hill; and
Damien Croteau-Chonka, Brigham
and Women’s Hosp, Boston
SESSION 72 – Inborn Errors of
Metabolism: Novel Disorders,
Models, and Observations
Co-Moderators: Seymour Packman,
UCSF; and Kristina Cusmano-Ozog,
Children’s Nat Med Ctr, Washington,
DC
SESSION 73 – Intellectual
Ability and Disability SESSION
Co-Moderators: Alicio Smith,
Emory Univ, Atlanta, Adam
Locke, Univ of Michigan, Ann
Arbor
359 The importance of assaying the
matched normal when sequencing
cancer genomes. E. Helman et al.
367 Large-scale inference of
activating and repressive nucleotides
in human cell types using tiling
reporter assays. J. Ernst et al.
375 NGLY1 disease causes
mitochondrial respiratory chain dysfunction and induction of
oxidative stress. J. Kong et al.
383 74 SNPs associated with
education provide insights into
brain function and disorders.
J. J. Lee et al.
360 Insights into somatic
mutation-driven cancer genome
evolution: A study of 3,000 cancer
genomes across 9 cancer types.
Z. Zhao et al.
368 Full-length mRNA sequencing
uncovers a widespread coupling
between transcription and mRNA
processing. S. Y. Anvar et al.
376 Mutations in pyruvate
dehydrogenase phosphatase
regulatory subunit (PDPR) are a novel
cause of fatal neonatal
cardio-encephalopathy with corneal
clouding and lactic acidosis.
J. Christodoulou et al.
384 Biallelic mutations in human
accelerated regions (HARs) are
associated with abnormal social
and cognitive behavior.
R. N. Doan et al.
361 Systematic analysis of mutation
distribution in three dimensional
protein structures identifies cancer
driver genes. A. Fujimoto et al.
369 The role of RNA polymerase II
pausing in the mediation of human
gene expression. J. Boden et al.
377 Signal transducer and activator of
transcription 2 (STAT2) deficiency is a
novel disorder of mitochondrial fission.
R. Shahni et al.
385 B56δ-related protein
phosphatase 2A dysfunction
identified in patients with
intellectual disability.
A. Hoischen et al.
362 Insights, mechansims, and
fundamental significance of
copy-neutral loss of heterozygosity
detected in oncology samples.
S. Schwartz et al.
370 Reappraising the protein-coding
potential of GENCODE using high
stringency mass spectrometry.
J. M. Mudge et al.
378 Smith-Lemli-Opitz Syndrome iPS
cells demonstrate abnormal neuronal
differentiation due to 7-dehydrocholesterol impairment of Wnt/β-Catenin
signaling. F. D. Porter et al.
386 Clinical indexing genes
affected by copy number
variation in neurodevelopmental
disorders. M. Uddin et al.
363 Genomic analysis reveals novel
secondary drivers and progression
pathways in skin basal cell carcinoma.
X. Bonilla et al.
371 Post-translational mechanisms
buffer protein abundance against
transcriptional variation.
S. C. Munger et al.
379 A mouse model of cblC
deficiency displays reduced survival,
growth retardation, and combined
methylmalonic acidemia and
hyperhomocysteinemia.
M. Arnold et al.
387 Functional characterization
of novel DEAF1 mutations in
clinical whole-exome sequencing
of intellectual disability patients
and its regulation of the RAI1
gene. L. Chen et al.
364 Recurrent somatic mutation in
the MYC associated factor X in brain
tumors. H. Nikbakht et al.
372 Convergence of genes and pathways influencing neurodevelopment
following suppression of
ASD-associated chromatin
modifiers and transcriptional
regulators in human neural progenitor
cells. S. Erdin et al.
380 Defects in SLC33A1 impair
copper ATPase trafficking and
contribute to the clinical and
biochemical phenotypes of
Huppke-Brendel syndrome.
L. Yi et al.
388 Investigating the
transcriptome wide impact of
expanded polyalanine tract
mutations in ARX contributing to
intellectual disability and
seizures.
C. Shoubridge et al.
365 The driver landscape of
parathyroid carcinoma.
C. Pandya et al.
373 High-throughput analysis of
gene-environment interactions across
250 cellular conditions. F. Luca et al.
381 Inhibition of CTR1 by antisense
oligonucleotides in mouse model of
Wilson’s disease reduces copper
accumulation and improves liver
pathology. T. R. Grossman et al.
389 WD-repeat 47 is essential
for the normal brain development
through interaction with SCG10
in tubulin-associated processes.
M. Kannan et al.
366 Epigenomic profiling of prostate
cancer identifies differentially
methylated genes in TMPRSS2:ERG
fusion positive versus negative
tumors. M. S. Geybels et al.
374 Functional dissection of BCL11A
enhancer by Cas9-mediated in situ
saturation mutagenesis.
M. C. Canver et al.
382 B4GALNT1 deficiency as a cause 390 Single-cell RNA-Seq of
of hereditary complex movement
human Cajal-Retzius neurons in
disorder with Parkinsonism features: A developing brain. J. Kim et al.
new inborn error of metabolism
affecting glycosphingolipid
biosynthesis. C. Lourenco et al.
Saturday, October 10: Concurrent Invited Sessions II
Time
Ballroom III, Level 4
Room 307, Level 3
Hall F, Level 1
Room 316, Level 3
Ballroom I, Level 4
SESSION 74 – Gene Editing/Rewriting the Genome:
Moving from Association to
Biology and Therapeutics
Moderator: Stephen H.
Tsang, Columbia Univ, New
York
SESSION 75 – Genetic
Control of the Microbiome
Moderator: George
Weinstock, Jackson Lab for
Genomic Med, Farmington
SESSION 76 – Integrating
Genomes and
Transcriptomes to
Understand Human
Disease
Co-Moderators: Michael J.
Clark, Personalis, Menlo
Park; and Tuuli Lappalainen,
New York Genome Ctr, New
York
SESSION 77 – Life Beyond
Additive Variance
Co-Moderators: Julien F.
Ayroles, Princeton; and
Andrew G. Clark, Cornell
Univ, Ithaca
SESSION 78 – Multiplexed
and Multimodal
Experimental Dissection of
Genetic Variants
Co-Moderators: Jay
Shendure, Univ Washington,
Seattle; and Melina
Claussnitzer, Harvard Med
Sch & Broad Inst MIT &
Harvard, Cambridge
01:45 pm
Treating dominantly inherited Assessment of effects of
brain diseases.
microbiome composition on
B. L. Davidson.
pediatric fatty liver disease.
N.H Salzman.
Correlative power of DNA to
RNA in cancer genomics.
E. Mardis.
Heritability and individual
prediction. A. G. Clark.
New experimental
approaches to the
large-scale functional
analysis of observed and
potential genetic variation.
J. Shendure.
02:15 pm
CRISPR-Cas9-mediated
mouse model generation with
high efficiency and
throughput. H. Wang.
Host-microbiome interactions
through the lens of
quantitative genomics.
A. Benson.
Identifying rare and causal
non-coding variants through
transcriptome sequencing.
S. Montgomery.
Obesity, a case for gene by
environment interactions.
P. Pajukanta.
Network based elucidation
and validation of causal
genomic variants.
A. Califano.
02:45 pm
iPS technology, gene
editing, and disease
research. R. Jaenisch.
Human host genetics and
regulation of the gut
microbiome. R. Ley.
DNA and RNA integrated
analysis in cancer and other
disease. D. Hayes.
Exploring the contribution of
variance-QTL to phenotypic
variation. J. F. Ayroles.
Experimentally validating
regulatory mechanisms
underlying human disease.
T. Reddy.
03:15 pm
The dynamics of
pluripotent stem cells define
the individual biology of human genomes. R. McKay.
Personal microbiomes in
health and disease.
M. Snyder.
Integrated analysis of
transcriptome and
genotype data for
understanding non-coding
variation. A. Battle.
Genetic control of
transcription in human
immune response. C. Ye.
Mechanistic dissection of
metabolic risk variants across
multiple phenotypic scales.
M. Claussnitzer.
1:45 PM–3:45 PM
Room 327, Level 3
Holiday Ballroom 1, 2nd
Floor
Room 318/321, Level 3
SESSION 82 – Translating
Genomic Knowledge into
Clinical Practice
Moderator: Marylyn D. Ritchie,
Gesinger Hlth Syst; The Pennsylvania State Univ, University
Park
SESSION 83 – Understanding
Disease Pathogenesis: A
Grand Challenge for Model
Organisms
Co-Moderators: Philip Hieter,
Univ British Columbia,
Vancouver; and Jasper Rine,
UC Berkeley
Using electronic health record
data and biorepositories, from
experimental discovery to
clinical decision support:
Progress and promise.
S. A. Pendergrass.
Fruit fly/mouse: A fly approach
to personalized cancer
therapeutics. R. Cagan.
IndiGenomics: Indigenizing
Genome-wide patterns and
genomics technologies. K. Fox. properties of de novo point
mutations. S. Sunyaev.
Prospective, multiplexed
genotyping to tailor genetic
therapy - the Vanderbilt
PREDICT program.
J. C. Denny.
Fruit fly/mouse: Molecular
genetics of tumor suppressor
genes and oncogenes.
D. Pan.
The Skeletal Dysplasia Management Consortium (SDMC):
An international,
multi-disciplinary approach to
improve clinical outcome for
skeletal dysplasia patients.
J. Hoover-Fong.
Staying for tea: An example of
community-engaged genetic
research. K. M. West.
Standards to enable genomic
Nematode worm:
clinical decision support:
Nutritional regulatory networks.
Making knowledge computable. M. Walhout.
R. R. Freimuth.
Morquio disease and
hypophosphatasia: Templates
for the journey from disease
characterization to life-changing
therapeutic management. R.
Savarirayan.
Whose risk? A comparison
Ribonucleotides, non-canonical DTC testing and genomic
of common and uncommon
nucleotides embedded in the
medicine: A cautionary tale.
inheritance, risk, and benefits in genome. A. P. Jackson.
J. D. Tenenbaum.
genomic research. J. Yracheta.
SESSION 79 – Optimizing
Clinical and Molecular
Characterisation and
Management in Skeletal
Dysplasias: An Exemplary
Model for Rare Genetic
Diseases.
Co-Moderators: Melita D. Irving,
Guy, London, United Kingdom;
and Ravi Savarirayan, Murdoch
Childrens Res Inst, Parkville,
Melbourne, Australia
Osteogenesis Imperfecta: How
an advocacy group initiative
established collaborative
research for a rare disease,
advanced knowledge and care,
and fostered an NIH Rare
Disease Clinical Research
Network to investigate brittle
bone diseases. V. Sutton.
From emerging new therapies
in children to defining and
implementing healthcare needs
in adults: Cradle to grave
management in
Achondroplasia. M. D. Irving.
Holiday Ballroom 4, 2nd
Floor
Room 309, Level 3
SESSION 80 – Research
Partners, Not Subjects:
Engaging Indigenous
Peoples in Genetics
Co-Moderators: Rene L. Begay,
Univ Colorado, Aurora; and
Julian R. Homburger, Stanford
Univ
SESSION 81 – The Landscape
of de novo Point Mutations
in the Human Genome: How
Many, Where, When and
Why?
Co-Moderators: Alexander
Hoischen, Radboud Univ Med
Ctr, Nijmegen, Netherlands;
and Gil McVean, Univ Oxford,
UK
The sovereign power of
American Indian communities
to engage or disengage in
genetics research.
K. S. Tsosie.
An evolutionary perspective on
human germline mutation.
M. Przeworski.
The selfish effect of paternal
age on germline mutations.
A. Goriely.
SAVE THE DATES
Invited Proposal Deadline
December 4, 2015
Yeast/zebrafish: Genetic
models to determine gene
function and a potential therapy
for an inherited anemia.
C. McMaster.