Ontology highlight
ABSTRACT:
SUBMITTER: Bowles NE
PROVIDER: S-EPMC4896306 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Bowles Neil E NE Jou Chuanchau J CJ Arrington Cammon B CB Kennedy Brett J BJ Earl Aubree A Matsunami Norisada N Meyers Lindsay L LL Etheridge Susan P SP Saarel Elizabeth V EV Bleyl Steven B SB Yost H Joseph HJ Yandell Mark M Leppert Mark F MF Tristani-Firouzi Martin M Gruber Peter J PJ
American journal of medical genetics. Part A 20150818 12
Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) tha ...[more]