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

oleh: Wenan Chen, Shuoguo Wang, Saima Sultana Tithi, David W. Ellison, Daniel J. Schaid, Gang Wu

Format: Article
Diterbitkan: Nature Portfolio 2022-05-01

Deskripsi

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.