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Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
(2021)
Abstract:
Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted wholeexome sequencing (WES) and identified underlying pathogenic or likely pathogenic ...
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
(2023)
Abstract:
Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and ...