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Genotype Harmonization


The Genotype Harmonization WG will ensure the availability of high quality genotype datasets harmonized across all PRIMED Consortium studies. This WG will address harmonization of both individual-level genotype data and genomic summary results. An initial priority for this WG will be to inventory existing data and formulate a quality control (QC) and harmonization plan. This plan will cover study-specific variant and sample QC; cross-study genotype harmonization -- including imputation to a common reference panel and transformation to a common genome build, allele representation, and data format; and cross-study QC to evaluate harmonization. Genotype QC and harmonization workflows will be implemented on the AnVIL or other platforms.

Past co-chairs
Nov 2021 - Jul 2023 Yun Li (EPIC-PRS, University of North Carolina at Chapel Hill)