Article
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
Genetic epidemiology - 1 Jul 2011
Capanu Marinela, Concannon Patrick, Haile Robert W, Bernstein Leslie, Malone Kathleen E, Lynch Charles F, Liang Xiaolin, Teraoka Sharon N, Diep Anh T, Thomas Duncan C, Bernstein Jonine L, Begg Colin B
Abstract excerpt
Current evidence suggests that the genetic risk of breast cancer may be caused primarily by rare variants. However, while classification of protein-truncating mutations as deleterious is relatively straightforward, distinguishing as deleterious or neutral the large number of rare missense variants is a difficult on-going task. In this article, we present one approach to this problem, hierarchical statistical...
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