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Chunk #42 — Methods — Generating impact scores for coding and noncoding SNPs

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Joint mouse-human phenome-wide association to test gene function and disease risk.
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We used two different methods—SIFT and PolyPhen—to predict whether amino acid substitutions in coding SNPs are likely to affect protein function. SIFT uses sequence homology and the physical properties of amino acids to predict impact, while PolyPhen uses sequence-based and structure-based predictive features.