Article
Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population.
Genetics - 1 Feb 2012
Gusev A, Shah M J, Kenny E E, Ramachandran A, Lowe J K, Salit J, Lee C C, Levandowsky E C, Weaver T N, Doan Q C, Peckham H E, McLaughlin S F, Lyons M R, Sheth V N, Stoffel M, De La Vega F M, Friedman J M, Breslow J L, Pe'er I
Abstract excerpt
Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced samples without resorting to complex statistical methods as in studies of outbred cohorts. We focus on an isolated population cohort from the Pacific Island of Kosrae,...
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