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Chunk #3 — Introduction

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GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.
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The NHLBI-supported TOPMed program15 with its collection of >155,000 human subjects with WGS data affords an unparalleled opportunity to leverage public controls and greatly expand GWAS sample sizes. With such a large sample size and one of the most genetically diverse datasets (40% European, 31% African, 16% Hispanic, 9% Asian, and 4% Others) available, TOPMed has the potential to overcome the aforementioned challenges of applying public controls, as the WGS data should overlap all variants measured on arrays, and the representation of non-European populations will enhance the availability of diverse public controls.