A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.
There is a growing need to develop variant prediction tools capable of assessing a wide spectrum of evidence. We present a Bayesian framework that involves aggregating pathogenicity data across multip
List of SNVs localized within five highest ranked genes based on prioritization analysis with ToppGene, which were predicted as probably or possibly damaging or deleterious during PolyPhen and SIFT an
Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as traini