Problems in variation interpretation guidelines and in their implementation in computational tools

ConclusionMethods used for variation interpretation have to be carefully selected. It should be possible to use only one predictor, with proven good performance  or a limited number of complementary predictors with state‐of‐the‐art performance. Bear in mind that diseases and pathogenicity have a continuum and variants are not dichotomic i.e. either pathogenic or benign, either.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research