Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Abstract

BACKGROUND Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified in the 2 most common long-QT syndrome-susceptibility genes (KCNQ1 and KCNH2). Unfortunately, an ≈3% BACKGROUND and KCNH2 nsSNVs amongst healthy individuals complicates the ability to distinguish rare pathogenic mutations from similarly rare yet presumably… (More)
DOI: 10.1161/CIRCGENETICS.112.963785

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@article{Giudicessi2012PhylogeneticAP, title={Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.}, author={John R. Giudicessi and Jamie D. Kapplinger and David Tester and Mari{\"e}lle Alders and Benjamin A. Salisbury and Arthur A. M. Wilde and Michael J. Ackerman}, journal={Circulation. Cardiovascular genetics}, year={2012}, volume={5 5}, pages={519-28} }