Success of a genome-wide association study (GWAS) depends on the density of variants available for analysis; these variants are sometimes rare and ancestry-specific. Imputation of un-genotyped variants is used to boost the resolution and power of GWAS; however, majority of large imputation reference panels do not adequately reflect the populations of Asia, which comprise approximately 60% of the world’s population. South and east Asian reference database (SEAD) addresses this gap by providing a large genetic reference panel derived from more than 11,000 individuals across 17 Asian countries. Here we explain how the SEAD reference panel fits into the larger group of tools for GWAS imputation, with regard of population representation, rare-variant interpretation, functional validation of identified gene, and discuss potential future developments essential to enhance genomic coverage.
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Ashenafi et al. (2026) studied this question.
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