Article
Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries.
Genetics - 17 May 2021
Kwong Alan M, Blackwell Thomas W, LeFaive Jonathon, de Andrade Mariza, Barnard John, Barnes Kathleen C, Blangero John, Boerwinkle Eric, Burchard Esteban G, Cade Brian E, Chasman Daniel I, Chen Han, Conomos Matthew P, Cupples L Adrienne, Ellinor Patrick T, Eng Celeste, Gao Yan, Guo Xiuqing, Irvin Marguerite Ryan, Kelly Tanika N, Kim Wonji, Kooperberg Charles, Lubitz Steven A, Mak Angel C Y, Manichaikul Ani W, Mathias Rasika A, Montasser May E, Montgomery Courtney G, Musani Solomon, Palmer Nicholette D, Peloso Gina M, Qiao Dandi, Reiner Alexander P, Roden Dan M, Shoemaker M Benjamin, Smith Jennifer A, Smith Nicholas L, Su Jessica Lasky, Tiwari Hemant K, Weeks Daniel E, Weiss Scott T, Scott Laura J, Smith Albert V, Abecasis Gonçalo R, Boehnke Michael, Kang Hyun Min
Abstract excerpt
Traditional Hardy-Weinberg equilibrium (HWE) tests (the χ2 test and the exact test) have long been used as a metric for evaluating genotype quality, as technical artifacts leading to incorrect genotype calls often can be identified as deviations from HWE. However, in data sets composed of individuals from diverse ancestries, HWE can be violated even without genotyping error, complicating the use of HWE testing to...
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