Study
Icelandic Genome
Project
Partners
deCODE/Amgen
Population
Icelandic
Enrolled
2,636
Genome
Sequencing Study
Geisinger Health
System/Regeneron
Northeast
PA, USA
100,000
The 100,000
Genomes Project
National Health
Service/NHS Genome
Centers/ 10 companies
forming Gene Consortium
including Abbvie, Alexion,
AstraZeneca, Biogen,
Dimension, GSK,
Helomics, Roche, Takeda,
UCB
7 centers across Saudi
Arabia in conjunction with
King Abdulaziz City
Science & Tech., King
Faisal Hospital & Research
Centre/Life Technologies
Rare
disorders
population
UK
Starting to
recruit
100,000
General
population
Saudi Arabia
20,000
genomes
over three
years
consortium of
the UMCG,LUMC, Erasmu
s MC, VU
university and UMCU.
Samples where
contributed
by LifeLines, The Leiden
Longevity Study, The
Netherlands Twin
Registry (NTR), The
Rotterdam
studies, and The Genetic
Research in Isolated
Populations program. All
the sequencing work is
done by BGI Hong Kong.
Privately funded
Families in
Netherlands
769
Faroe
Islands
$4000.00 fee from
participants; collaboration
Canadian
Health
Saudi Human
Genome Program
Genome of the
Netherlands
(GoNL) Consortium
Faroese FarGen
project
Personal Genome
Project Canada
Disease areas
Variants related
to: Alzheimer’s,
cardiovascular,
diabetes
Variants related
to
hypercholestemia
, autism, obesity,
other diseases
Initially rare
diseases, cancer,
infectious
diseases
Analysis
WES + EMR;
blood
samples
First focus on rare
severe early
onset diseases:
diabetes,
deafness,
cardiovascular,
skeletal
deformation
Variants, SNV,
indels, deletions
from apparently
healthy
individuals, family
trios
Whole
genome
sequence
blood
samples +
EMR
Faroese
population
50,000
Small population
allows for family
analysis
Goal:
100,000
? just started no
defined analysis
Combine
NGS with
EMR and
genealogy
reports
Whole
exome and
WES +EMR
+MyCode;
- Blood
samples
WES of
blood, saliva
and tissue
samples
Ref paper
Whole
genome NGS
of whole
blood no
EMR
Ref paper in
Nat.
Genetics
Ref paper
describing
project
Singapore
Sequencing Malay
Project (SSMP)
with University of Toronto
and SickKids Organization;
technical assistance with
Harvard
Singapore Genome
Variation Project
System
Malaysian
Singapore
Pharmacogenomics
Project
GenomeDenmark
Neuromics
Consortium
four Danish universities
(KU, AU, DTU and AAU),
two hospitals (Herlev and
Vendsyssel) and two
private firms (Bavarian
Nordic and BGI-Europe).
University of Tübingen
and 18 academic and
industrial partners (see
link for description)
European
and
Australian
100
healthy
Malays
from
Singapore
Pop.
Health
Study
150
complete
genomes;
first 30
published
in Nature
Comm.
1,100
patients
with
neurodegenerati
ve and
neuromuscular
disease
goals yet
medical
records
Variant analysis
Deep whole
genome
sequencing
?
See link
Moved from SNP
to whole exome
analysis
Whole
Exome,
RNASeq