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Mixed-model association for biobank-scale datasets

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  1. Article

    Open Access

    Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

    Understanding the role of rare variants is important in elucidating the genetic basis of human disease. Negative selection can cause rare variants to have larger per-allele effect sizes than common variants. H...

    Armin P. Schoech, Daniel M. Jordan, Po-Ru Loh, Steven Gazal… in Nature Communications (2019)

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  2. Article

    Open Access

    Population-specific causal disease effect sizes in functionally important regions impacted by selection

    Many diseases exhibit population-specific causal effect sizes with trans-ethnic genetic correlations significantly less than 1, limiting trans-ethnic polygenic risk prediction. We develop a new method, S-LDXR,...

    Huwenbo Shi, Steven Gazal, Masahiro Kanai, Evan M. Koch… in Nature Communications (2021)

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