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

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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Samuel S. Kim, Kushal K. Dey, Omer Weissbrod, Carla Márquez-Luna, Steven Gazal, Alkes L. Price
Format: article
Langue:EN
Publié: Nature Portfolio 2020
Sujets:
Q
Accès en ligne:https://doaj.org/article/a9c384dedfce4fe695bcccca771f0514
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!