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The UK10K Cohorts Project: Rare variant analysis by whole genome sequencing in 3,621 samples

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The UK10K Cohorts Project aims to research the relationship between rare and common genetic variants with a comprehensive set of quantitative measures that are relevant to cardiovascular and metabolic disease. The project is based on two cohorts, ALSPAC (Bristol) and TwinsUK (UK-wide), in total 3,621 individuals.

Some of the challenges in this project are to call genetic variants accurately from low-coverage data across thousands of samples and to impute missing and low-quality variants. The loss of power poses another problem for association analyses with rare variants. On the other hand these rare variants allow in depth analyses of the population structure within the UK.

The whole UK10K project received a £10.5 million funding award from the Wellcome Trust, it is currently Britain’s largest genomic sequencing consortium (2010 to 2013). The UK10K project also provides an enduring data resource for future research into human genetics.

This talk is part of the Cambridge Statistics Discussion Group (CSDG) series.

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