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Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.

Genetic epidemiology - 1 Sept 2020

Quick Corbin, Anugu Pramod, Musani Solomon, Weiss Scott T, Burchard Esteban G, White Marquitta J, Keys Kevin L, Cucca Francesco, Sidore Carlo, Boehnke Michael, Fuchsberger Christian

Abstract excerpt

A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large sample sizes. Array genotyping interrogates a sparser set of variants, which can be used as a...

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Identifiers

PMID: 32519380
DOI: 10.1002/gepi.22326
PMCID: PMC7449570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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