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Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

2 Oct 2020

Abstract excerpt

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-genome and iPSC RNA sequencing of a HLHS family-trio. Filtering for rare variants and altered expression in proband iPSCs prioritized 10 candidates....

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PMID: 33006316
DOI: 10.7554/elife.59554

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