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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386911/
https://www.ncbi.nlm.nih.gov/pubmed/28050887
http://dx.doi.org/10.1007/s12687-016-0289-x

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