2016 ASHG: In Silico Variant Effect Prediction for Whole Exome Analysis: Clinical Caveats

Computational tools such as SIFT, PolyPhen and others provide in silico prediction of the pathogenicity of missense sequence variants based on sequence information.  Some of these tools, such as SIFT and PolyPhen, have been in use since the early 2000’s, before the completion of the human genome.