Article
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.
American journal of human genetics - 1 Sept 2022
Hanks Sarah C, Forer Lukas, Schönherr Sebastian, LeFaive Jonathon, Martins Taylor, Welch Ryan, Gagliano Taliun Sarah A, Braff David, Johnsen Jill M, Kenny Eimear E, Konkle Barbara A, Laakso Markku, Loos Ruth F J, McCarroll Steven, Pato Carlos, Pato Michele T, Smith Albert V, Boehnke Michael, Scott Laura J, Fuchsberger Christian
Abstract excerpt
Understanding the genetic basis of human diseases and traits is dependent on the identification and accurate genotyping of genetic variants. Deep whole-genome sequencing (WGS), the gold standard technology for SNP and indel identification and genotyping, remains very expensive for most large studies. Here, we quantify the extent to which array genotyping followed by genotype imputation can approximate WGS in...
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