Article

Estimating clinical risk in gene regions from population sequencing cohort data

2023-01-09

Abstract excerpt

While pathogenic variants significantly increase disease risk in many genes, it is still challenging to estimate the clinical impact of rare missense variants more generally. Even in genes such as BRCA2 or PALB2 , large cohort studies find no significant association between breast cancer and rare germline missense variants collectively. Here we introduce REGatta, a method to improve the estimation of clinical risk...

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Literature Corpus work: 234df0bf-b912-50f0-8d89-03cf03f67eb8
DOI: 10.1101/2023.01.06.23284281

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