A gene-specific method for predicting hemophilia-causing point mutations.

ABSTRACT: A fundamental goal of medical genetics is the accurate prediction of genotype-phenotype correlations. As an approach to develop more accurate in silico tools for prediction of disease-causing mutations of structural proteins, we present a gene- and disease-specific prediction tool based on a large systematic analysis of missense mutations from hemophilia A (HA) patients. Our HA-specific prediction tool, HApredictor, showed disease prediction accuracy comparable to other publicly available prediction software. In contrast to those methods, its performance is not limited to non-synonymous mutations. Given the role of synonymous mutations in disease and drug codon optimization, we propose that utilizing a gene- and disease-specific method can be highly useful to make functional predictions po

SUBMITTER: Hamasaki-Katagiri N 

PROVIDER: S-EPMC4029106 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature