Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women

Volume: 146, Issue: 8, Pages: 2175 - 2181
Published: Dec 27, 2019
Abstract
The missing heritability of breast cancer could be partially attributed to rare variants (MAF < 0.5%). To identify breast cancer-associated rare coding variants, we conducted whole-exome sequencing (~50×) in genomic DNA samples obtained from 831 breast cancer cases and 839 controls of Chinese females. Using burden tests for each gene that included rare missense or predicted deleterious variants, we identified 29 genes showing promising...
Paper Details
Title
Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women
Published Date
Dec 27, 2019
Volume
146
Issue
8
Pages
2175 - 2181
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