KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels
Author(s) -
Lucy F. Stead,
Ian Wood,
David R. Westhead
Publication year - 2011
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btr365
Subject(s) - single nucleotide polymorphism , matthews correlation coefficient , voltage gated potassium channel , receiver operating characteristic , potassium channel , genetic association , correlation , computational biology , disease , genetics , gene , computer science , biology , artificial intelligence , medicine , machine learning , genotype , mathematics , geometry , support vector machine
Non-synonymous single nucleotide polymorphisms (nsSNPs) in voltage-gated potassium (Kv) channels cause diseases with potentially fatal consequences in seemingly healthy individuals. Identifying disease-causing genetic variation will aid presymptomatic diagnosis and treatment of such disorders. NsSNP-effect predictors are hypothesized to perform best when developed for specific gene families. We, thus, created KvSNP: a method that assigns a disease-causing probability to Kv-channel nsSNPs.
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