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Approved Research

Assessing the Role of Structural Variation in Human Disease using Genotype Imputation with a Cosmopolitan Reference Panel of Diverse Variants

Principal Investigator: Dr Michael Zody
Approved Research ID: 65748
Approval date: October 6th 2020

Lay summary

Knowledge gained from SV characterization has the potential to uncover new relationships between SVs and outcome traits, unveil important biological complexities, and ultimately assess individual disease risk. We will release summary statistics from all GWASs, facilitating their use in meta-analyses and polygenic risk studies to increase statistical power for detecting effects.

Our integrated 1000 Genomes panel will be publicly released to the community. It can be used to query un-assayed genetic variants of diverse classes and assess their influence on a trait. Additionally, this work will provide a best-practices guide on imputing SV and help promote robust research practices.