The growing use of next-generation sequencing technologies on genetic diagnosis has produced an exponential increase in the number of variants of uncertain significance (VUS). In this manuscript, we compare three machine learning methods to classify ...
Hereditary disorders are frequently caused by genetic variants that affect pre-messenger RNA splicing. Though genetic variants in the canonical splice motifs are almost always disrupting splicing, the pathogenicity of variants in the noncanonical spl...
Advances in genome sequencing have led to a tremendous increase in the discovery of novel missense variants, but evidence for determining clinical significance can be limited or conflicting. Here, we present Learning from Evidence to Assess Pathogeni...
Detecting epistatic interaction is a typical way of identifying the genetic susceptibility of complex diseases. Multifactor dimensionality reduction (MDR) is a decent solution for epistasis detection. Existing MDR-based methods still suffer from high...