Article
The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.
Bioinformatics (Oxford, England) - 1 Oct 2016
Al-Numair Nouf S, Lopes Luis, Syrris Petros, Monserrat Lorenzo, Elliott Perry, Martin Andrew C R
Abstract excerpt
MOTIVATION: High-throughput sequencing platforms are increasingly used to screen patients with genetic disease for pathogenic mutations, but prediction of the effects of mutations remains challenging. Previously we developed SAAPdap (Single Amino Acid Polymorphism Data Analysis Pipeline) and SAAPpred (Single Amino Acid Polymorphism Predictor) that use a combination of rule-based structural measures to predict...
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