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Mashup Score: 1Population-specific causal disease effect sizes in functionally important regions impacted by selection - 4 year(s) ago
Trans-ethnic genetic correlation is significantly less than 1 for many diseases. Here, the authors stratify this correlation by genomic annotations, finding that loci whose causal disease effect sizes differ between ethnicities are likely impacted by selection, particularly positive selection.
Source: Nature CommunicationsCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 0Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease - 4 year(s) ago
Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a framework to improve their informativeness for common disease.
Source: Nature CommunicationsCategories: General Medicine News, Latest HeadlinesTweet-
AnnotBoost, a machine learning framework to impute and denoise pathogenicity scores increases the informativeness for common disease. https://t.co/CWyOi5B9YI @samsungilkim @kanishkadey @oweissb @stevengazi @Harvard_PGSG
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Stratifying trans-ethnic genetic correlations reveals that loci with population-specific disease effect sizes are likely impacted by selection @shihuwenbo @StevenGazi @masakanai @samsungilkim @yluo86 @TAmariuta @okada_yukinori @soumya_boston @Harvard_PGSG https://t.co/uMeZQuRCTN