Article
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2019
Alankarage Dimuthu, Ip Eddie, Szot Justin O, Munro Jacob, Blue Gillian M, Harrison Katrina, Cuny Hartmut, Enriquez Annabelle, Troup Michael, Humphreys David T, Wilson Meredith, Harvey Richard P, Sholler Gary F, Graham Robert M, Ho Joshua W K, Kirk Edwin P, Pachter Nicholas, Chapman Gavin, Winlaw David S, Giannoulatou Eleni, Dunwoodie Sally L
Abstract excerpt
PURPOSE: Congenital 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. METHODS: Ninety-seven families with probands born with CHD requiring surgical correction were recruited for genome sequencing. At minimum, a proband-parents trio was...
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