Copy number variants in Ebstein anomaly

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Copy number variants in Ebstein anomaly

BACKGROUND Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE We performed a population-based study to...

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The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...

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ژورنال

عنوان ژورنال: PLOS ONE

سال: 2017

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0188168