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

ABSTRACT: 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 may be reclassified to better inform patient care when new evidence is available. It is critical that the methods used for reclassification are robust in order to prevent inappropriate medical management strategies and unnecessary, life-altering surgeries. In an effort to provide evidence for classification, several in silico algorithms have been developed that attempt to predict the functional impact of missense variants through amino acid sequence conservation analysis. We report an analysis co

SUBMITTER: Kerr ID 

PROVIDER: S-EPMC5386911 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature