Article

CoCoRV: a rare variant analysis framework using publicly available genotype summary counts to prioritize germline disease-predisposition genes

2021-10-01

Abstract excerpt

<h4>ABSTRACT</h4> Sequencing cases without matched healthy controls hinders prioritization of germline disease-predisposition genes. To circumvent this problem, genotype summary counts from public data sets can serve as controls. However, systematic inflation and false positives can arise if confounding factors are not addressed. We propose a new framework, co nsistent summary co unts based r are v ariant bur...

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Literature Corpus work: 3c070e36-a308-5db2-b152-9ae475999b9b
DOI: 10.1101/2021.09.29.462472

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