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

Autor: Samuel S. Kim, Kushal K. Dey, Omer Weissbrod, Carla Márquez-Luna, Steven Gazal, Alkes L. Price
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-020-20087-2
Popis: 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.
Databáze: Directory of Open Access Journals