Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

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...

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Pubblicato in:PLoS Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4894565/
https://ncbi.nlm.nih.gov/pubmed/27272900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006096
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