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NIHR BioResource - Rare Diseases
Exome Sequencing Proposals
Requester Details
The completed form is to be emailed to the CAmbridge Translational GenOmics
(CATGO) laboratory at info@catgo.org.uk. Further information about the criteria for
assessment of requests for sequencing of Rare Disease cases can be found at
www.catgo.org.uk under ”Policy Document” tab
Name of Lead
Applicant
Department,
Hospital
Postcode, City
Phone
Co-Applicants1
NIHR
BioResource
Topic Specific
Working Group
Email
(i)
(ii)
(iii)
Neuroscience
Cardiovascular
Infection & Immunity
Does it concern a
Rare Disease2,
incl. Rare Cancers
1
please provide First Name, Surname, Email, Hospital, City, Country and if more than three Co-Applicants then
provide the required information in an accompanying spread-sheet.
2
a Rare Disease has an incidence of 5 in 10,000 of the general UK population or lower. Applications for Rare Diseases
which are aligned to one of the three NIHR BioResource Topic Specific Working Groups are particularly welcomed.
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Scientific proposal
Background: the following headings need to be addressed in the Background. The
overall length of the Background should not exceed 1 side of A4
Clinical phenotype
The collection of cases
Which underlying genetic architecture is assumed
Which power calculations have been performed
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Any further comments about the proposed study which need addressing
(do not exceed ½ A4)
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Analysis plan
Will you require bioinformatics support from NIHR
BioResource - Rare Diseases?
Please outline your proposed analysis plan
Who will be providing other bioinformatics/statistical genetics support? Please
state name, position and institution.
Name
Position
Institution
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Sample details
Q1: Number of samples requested
Q2: Has ethical approval been obtained for the
- (a) sequencing of the coding fraction of the genome (the exome)? Yes / No
- (b) sequencing of the entire genome?
Yes / No
- (c) release of the sequencing data on the European GenomeYes / No
phenome Archive under a “Click-It” agreement?
Q3a: Are samples in your possession and ready to submit? *
Yes / No
*, if YES, then continue with Q3b; if NO then skip Q3b-Q3e and continue with Q4
Q3b: If YES what is the number of DNA samples available now?
Q3c: Have all samples been quality checked?
Yes / No
If yes, by which method(s)?
Yes / No
Q3d: Do all samples have >5 g of DNA?
Q3e: What is the DNA concentration of the stock in g/ml?
Q4: If NO samples are available or if you are expanding your current collection of
samples (declared under Q3b) then please indicate the number of samples which
may be imported into Cambridge from the beginning of Quarter 2-2013 until the
end of Quarter 1-2014. It is essential for the planning of the Exome-seq pipeline to
provide reliable figures for sample imports over the next 4 quarters
Calendar Quarter -year
No. of
% of total
samples
sample
collection
Quarter 3-2013
Quarter 4-2013
Quarter 1-2014
Quarter 2-2014
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Q5: Are samples for which you seek Exome-seq capacity now and in the future from
cases of:
Centre & Country
Number
%
NIHR Biomedical Research Centres ~
NIHR Biomedical Research Units~
Other UK centres~
Other European centres
US centres
Centres in other countries not listed above
Q6: Can you indicate whether the proposed project will influence patient care in the
NHS over the next 5 years; please explain. (do not exceed ½ A4)
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Q7: Do you have any other comments on your request (do not exceed ½ A4)
~The priority of the NIHR BioResource Exome-seq is to sequence samples from individuals who have been
consented to the NIHR BioResource - Rare Diseases), or in the case of existing collections where there is
agreement to seek consent for enrolment in the NIHR BioResource - Rare Diseases in parallel. Some capacity
may be available for already collected DNA samples where it is not possible to seek NIHR BioResource - Rare
Diseases consent. For expansion of collections enrolment via the NIHR BioResource - Rare Diseases is a
prerequisite to get access to the NIHR BioResource Exome-seq capacity. DNA samples from abroad are
permissible under certain circumstances, e.g. in the case of Rare Diseases and co-investment from separate
funding streams for a part of the Exome-seq costs from locally available budgets will be agreed. Studies with
relevance for one of the three following clinical domains: (i) Neurological Disorders, above all those with
relevance to Dementia and Alzheimer’s Disease; (ii) Cardiovascular Diseases, (iii) Infection & Immunity are
particularly welcomed.
The application will be assessed by the NIHR BioResource - Rare Diseases Sequencing and Informatics
Committee. The committee will use the following criteria to assess the application.
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Application Number:……………………….