Article
A Phylogenetic Approach to Analyze the Conservativeness of BRCA1 and BRCA2 Mutations.
AMIA ... Annual Symposium proceedings. AMIA Symposium - 1 Jan 2020
Lai Jiaying, Sarkar Indra Neil
Abstract excerpt
Identifying pathogenic mutations in BRCA1 and BRCA2 is a critical step for breast cancer prediction. Genome-wide association studies (GWAS) are the most commonly used method for inferring pathogenic mutations. However, identifying pathogenic mutations using GWAS can be difficult. The hypothesis of this study is that the pathogenic mutations in human BRCA1/BRCA2, which are present in many species, are more likely...
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