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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados