Article
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
PLoS genetics - 1 Jun 2016
Thouvenot Pierre, Ben Yamin Barbara, Fourrière Lou, Lescure Aurianne, Boudier Thomas, Del Nery Elaine, Chauchereau Anne, Goldgar David E, Houdayer Claude, Stoppa-Lyonnet Dominique, Nicolas Alain, Millot Gaël A
Abstract excerpt
Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted outputs, to be implemented in the clinical decision-making process. Here, we assessed 25 pathogenic...
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