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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 |
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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.