B916 - 10000 UK genome sequences accessing the role of rare genetic variants in health disease - 01/11/2009

B number: 
B916
Principal applicant name: 
Dr Richard Durbin (Sanger Institute, UK)
Co-applicants: 
Dr Nic Timpson (University of Bristol, UK)
Title of project: 
10000 UK genome sequences: accessing the role of rare genetic variants in health & disease.
Proposal summary: 

The 10,000 UK Genome Sequence project is an expansion on the GWAS (common gene variant) studies that we have already performed on our twin cohort. Our primary objective is to investigate in a systematic genome-wide fashion the contribution of low frequency and rare genetic variants to medical traits, based on genome-scale sequencing of phenotyped samples. We will study multiple groups of related phenotypes so as to explore rare variants in different types of disease process, and add exomes from extreme sample sets to increase power and compare clinical extreme to population cohort designs. The sequence data set we generate will provide a public genotype resource an order of magnitude deeper than available currently that will empower future human genetic research in the UK and beyond.

We do not plan to do provide the twins with the results of their genetic data, which is in keeping with the procedures we have maintained in our previous genetic projects.

Date proposal received: 
Sunday, 1 November, 2009
Date proposal approved: 
Sunday, 1 November, 2009
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