Article
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
American journal of human genetics - 3 Oct 2024
Shyr Derek, Dey Rounak, Li Xihao, Zhou Hufeng, Boerwinkle Eric, Buyske Steve, Daly Mark, Gibbs Richard A, Hall Ira, Matise Tara, Reeves Catherine, Stitziel Nathan O, Zody Michael, Neale Benjamin M, Lin Xihong
Abstract excerpt
Large-scale, multi-ethnic whole-genome sequencing (WGS) studies, such as the National Human Genome Research Institute Genome Sequencing Program's Centers for Common Disease Genomics (CCDG), play an important role in increasing diversity for genetic research. Before performing association analyses, assessing Hardy-Weinberg equilibrium (HWE) is a crucial step in quality control procedures to remove low quality...
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