Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases
por: Vail, Paris J., et al.
Publicado: (2015) -
A Systematic Review and Meta-Analysis of the Data Behind Current Recommendations for Corticosteroids in Non–HIV-Related PCP: Knowing When You Are on Shaky Foundations
por: Injean, Patil, et al.
Publicado: (2017) -
Prototyping for physical and digital products
por: McElroy, Kathryn
Publicado: (2016) -
Prototyping for designers: designing the best digital and physical products
por: McElroy, Kathryn
Publicado: (2017) -
101 reasons: to switch to the Mac
por: McElroy, Mark
Publicado: (2006)