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Background Hypoplastic left heart syndrome (HLHS) is a congenital heart defect in which the left ventricle of the heart is severely underdeveloped. Applying patient-specific induced pluripotent stem cells (iPSC) with highthroughput sequencing technology in RNA-seq and whole genome sequencing (WGS) provides an unprecedented opportunity to investigate the disease-specific transcription profiles linked to potential genetic causes in HLHS. Bioengineered HLHS patient-specific iPSCs and differentiated cardiac tissues offer a platform to recapitulate the individual developmental process to study the molecular causes of the disease.

bmc bioinformatics

Prioritizing disease-related genes and pathways by integrating patient-specific iPSC-derived RNA-seq and whole genome sequencing in hypoplastic left heart syndrome