Journal article

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, Sally L Dunwoodie, Joshua WK Ho, Desiree CK Hilton, Susan M White, Gary F Sholler, Richard P Harvey, David S Winlaw

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | ELSEVIER SCIENCE INC | Published : 2014

Abstract

BACKGROUND: Many genes have been implicated in the development of congenital heart disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is often complicated by logistic and interpretative hurdles. OBJECTIVES: This study sought to apply next-generation sequencing technology to CHD families with multiple affected members using a purpose-designed gene panel to assess diagnostic potential for future clinical applications. METHODS: We designed a targeted next-generation sequencing gene panel for 57 genes previously implicated in CHD. Probands were screened in 16 families with strong CHD histories and in 15 control subjects. Variants affecting protein-coding regio..

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