Open AccessWhole Exome Sequencing for Familial Bicuspid Aortic Valve Identifies Putative Variants
Author(s) -
Lisa J. Martin,
Valentina Pilipenko,
Kenneth M. Kaufman,
Linda Cripe,
Leah C. Kottyan,
Mehdi Keddache,
Phillip J. Dexheimer,
Matthew T. Weirauch,
D. Woodrow Benson
Publication year - 2014
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.114.000526
Subject(s) - exome sequencing , genetics , bicuspid aortic valve , biology , exome , mendelian inheritance , genetic linkage , mutation , medicine , gene , aortic valve
Bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation. Although highly heritable, few causal variants have been identified. The purpose of this study was to identify genetic variants underlying BAV by whole exome sequencing a multiplex BAV kindred.
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