Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.


Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia. [Email]


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.


ACMG,clinical utility,congenital heart disease,genetic diagnosis,genome sequencing,

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