Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Abstract
PurposeCongenital heart disease (CHD) affects up to 1% of live births. However, a genetic diagnosis is not made in most cases. The purpose of this study was to assess the outcomes of genome sequencing (GS) of a heterogeneous cohort of CHD patients.MethodsNinety-seven families with probands born with CHD requiring surgical correction were recruited for genome sequencing. At minimum, a proband-parents trio was sequenced per family. GS data were...
Paper Details
Title
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Published Date
May 1, 2019
Journal
Volume
21
Issue
5
Pages
1111 - 1120
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