Skip to navigation Skip to main content Skip to footer

Approved research

Fine-scale mapping between genetic variants and health-related traits in a general population

Principal Investigator: Dr Evan Eichler
Approved Research ID: 51663
Approval date: August 30th 2019

Lay summary

Recent studies have revealed a great genetic diversity across global human population groups. While the association between genetic variation and health-related traits has been hypothesized for decades, due to the constraint of sparse phenotypic data, the identification of true variants that affect phenotypic variation remains largely elusive. Thus, the rich, thorough health resources collected in the UK BioBank provide unprecedented opportunities to study which and how genetic variants contribute trait variation in a general population. In the proposed project, we aim to identify genetic variants underlying health-related traits, with a special focus on the contribution from structural variants (SVs), including copy number variants, deletions, insertions, and inversions. The expected outcomes of our study will provide 1) high-quality genomic variants, including both SNVs and SVs, and 2) fine-scale variant-trait mapping in the general population in the UK. Our research laboratory has been categorizing and compiling a database of high-quality SNVs and SVs using other published genomic data sets, including European descents. Discovery and genotypes of these variants for the UK BioBank collection will be determined using in-house computational pipelines that were published by our laboratory. To link genetic variants with potential phenotypic variations, we identify i) highly differentiated genomic variants between populations and assess phenotypic differences associated with individual alleles, and ii) phenotypic differences between groups and then associate them with genotypic variations. To accomplish these aims, we will adapt statistical modeling techniques and apply classic population genetic statistics. The anticipated length of this project is three years.