Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Abstract
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. siRNA/RNAi-mediated knockdown in healthy human...
Paper Details
Title
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Published Date
Oct 2, 2020
Journal
Volume
9
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