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Approved research

Evaluation of a hybrid whole exome sequencing panel combined with microarray data for genotype imputation into GWAS cohorts

Principal Investigator: Dr Jared O'Connell
Approved Research ID: 51368
Approval date: November 28th 2019

Lay summary

Genome-wide association studies (GWAS) aim to identify genetic variants that are correlated with phenotypes of interest (such as disease). Genotype imputation is a crucial component of GWAS, providing a cost-effective approach to investigating a much larger number of variants, some of which may be causal in disease. Our project will investigate the possibility of improving imputation by combining the existing whole-exome sequencing and microarray data available for UKBB participants. Improving imputation, and hence GWAS, may lead to novel genetic associations which can be used to develop new treatments and improve prediction of disease risk.