Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes

Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified as variants of uncertain significance (VUS). VUSs m...

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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Kerr, Iain D., Cox, Hannah C., Moyes, Kelsey, Evans, Brent, Burdett, Brianna C., van Kan, Aric, McElroy, Heather, Vail, Paris J., Brown, Krystal L., Sumampong, Dechie B., Monteferrante, Nicholas J., Hardman, Kennedy L., Theisen, Aaron, Mundt, Erin, Wenstrup, Richard J., Eggington, Julie M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386911/
https://ncbi.nlm.nih.gov/pubmed/28050887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-016-0289-x
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