Article
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Clinical genetics - 1 Dec 2015
Rosenthal E T, Bowles K R, Pruss D, van Kan A, Vail P J, McElroy H, Wenstrup R J
Abstract excerpt
Based on current consensus guidelines and standard practice, many genetic variants detected in clinical testing are classified as disease causing based on their predicted impact on the normal expression or function of the gene in the absence of additional data. However, our laboratory has identified a subset of such variants in hereditary cancer genes for which compelling contradictory evidence emerged after the...
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