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Article

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.

Nature communications - 7 Dec 2020

Kim Samuel S, Dey Kushal K, Weissbrod Omer, Márquez-Luna Carla, Gazal Steven, Price Alkes L

Abstract excerpt

Despite considerable progress on pathogenicity scores prioritizing variants for Mendelian disease, little is known about the utility of these scores for common disease. Here, we assess the informativeness of Mendelian disease-derived pathogenicity scores for common disease and improve upon existing scores. We first apply stratified linkage disequilibrium (LD) score regression to evaluate published pathogenicity...

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Identifiers

PMID: 33288751
DOI: 10.1038/s41467-020-20087-2
PMCID: PMC7721881

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