A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes

Autor: Wenan Chen, Shuoguo Wang, Saima Sultana Tithi, David W. Ellison, Daniel J. Schaid, Gang Wu
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-022-30248-0
Popis: Sequencing studies in clinical and cancer genomics often utilize public data sets to identify genes enriched with pathogenic variants. Here, the authors propose a framework which controls for confounding factors that can bias the results in these studies.
Databáze: Directory of Open Access Journals