Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome | Zendy

John R. Giudicessi | Zendy; Jamie D. Kapplinger | Zendy; David J. Tester | Zendy; Mariëlle Alders | Zendy; Benjamin A. Salisbury | Zendy; Arthur A.M. Wilde | Zendy; Michael J. Ackerman | Zendy

Open Access

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

Author(s) -

John R. Giudicessi,

Jamie D. Kapplinger,

David J. Tester,

Mariëlle Alders,

Benjamin A. Salisbury,

Arthur A.M. Wilde,

Michael J. Ackerman

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.112.963785

Subject(s) - nonsynonymous substitution , in silico , biology , genetics , single nucleotide polymorphism , phylogenetic tree , computational biology , long qt syndrome , gene , qt interval , medicine , genotype , genome

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%

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