Article
Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Sept 2021
Shivakumar Manu, Miller Jason E, Dasari Venkata Ramesh, Zhang Yanfei, Lee Ming Ta Michael, Carey David J, Gogoi Radhika, Kim Dokyoon
Abstract excerpt
BACKGROUND: Rare variants play an essential role in the etiology of cancer. In this study, we aim to characterize rare germline variants that impact the risk of cancer. METHODS: We performed a genome-wide rare variant analysis using germline whole exome sequencing (WES) data derived from the Geisinger MyCode initiative to discover cancer predisposition variants. The case-control association analysis was conducted...
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