Article
Characterizing substructure via mixture modeling in large-scale genetic summary statistics.
American journal of human genetics - 6 Feb 2025
Stoneman Hayley R, Price Adelle M, Trout Nikole Scribner, Lamont Riley, Tifour Souha, Pozdeyev Nikita, Crooks Kristy, Lin Meng, Rafaels Nicholas, Gignoux Christopher R, Marker Katie M, Hendricks Audrey E
Abstract excerpt
Genetic summary data are broadly accessible and highly useful, including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into summary data, such as allele frequencies, masks intra- and inter-sample heterogeneity, leading to confounding, reduced power, and bias. Ultimately, unaccounted-for substructure limits summary data...
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