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Mashup Score: 16Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity - Nature Genetics - 2 year(s) ago
A heritability-based framework for evaluation of SNP-to-gene linking methods is used to construct an optimal, combined approach and applied to 49 traits. Analysis of trait omnigenicity suggests gene-level architecture varies depending on variant frequency.
Source: NatureCategories: Genetics, Latest HeadlinesTweet
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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-
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
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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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📢 ONLINE TODAY @NatureGenet 📰 Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity 🧑🏿🤝🧑🏽 @StevenGazi @oweissb Alkes Price and colleagues 👇🏿 https://t.co/PZc5FYk9nZ