10,000 UK genome sequences: accessing the role of rare genetic variants in health and disease. (360G-Wellcome-091310_Z_10_Z)

£2,932,535

We propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the exome sequence (protein coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related m etabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will analyse directly quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as well as single-variant approaches. We will make the sequence data we obtain available for further research purposes, empowering many additional research directions both on these samples and by imputation on further samples from the UK and beyond.

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Grant Details

Amount Awarded 2932535
Applicant Surname Durbin
Approval Committee Strategic Awards Committee
Award Date 2009-12-14T00:00:00+00:00
Financial Year 2009/10
Grant Programme: Title Strategic Award - Science
Internal ID 091310/Z/10/Z
Lead Applicant Dr Richard Durbin
Other Applicant(s) Dr Jeffrey Barrett, Prof (Ismaa) Sadaf Farooqi, Prof Aarno Palotie, Prof Eleftheria Zeggini, Prof George Davey Smith, Prof Ines Barroso, Prof Leena Peltonen, Prof Matthew Hurles, Prof Nicole Soranzo, Prof Timothy Spector
Partnership Value 2932535
Planned Dates: End Date 2013-03-31T00:00:00+00:00
Planned Dates: Start Date 2010-04-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region East of England