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In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease
Version 1
: Received: 2 January 2024 / Approved: 3 January 2024 / Online: 3 January 2024 (11:57:54 CET)
A peer-reviewed article of this Preprint also exists.
Nappi, F. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease. Int. J. Mol. Sci. 2024, 25, 1734. Nappi, F. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease. Int. J. Mol. Sci. 2024, 25, 1734.
Abstract
New insights into the causes and mechanisms of congenital heart disease (CHD) have been gained through the use of next-generation sequencing. Examination of the whole exome sequence detects detrimental gene variations modifying single or contiguous nucleotides, that are characterised as pathogenicity based on statistical assessments of families. and correlates with congenital heart disease, elevated expression during heart development, and reduction of harmful protein-coding mutations in the general population. Patients with CHD and extracardiac abnormalities enriched for gene classes meeting these criteria. CHDs and extracardiac defects, supporting a common set of pathways in the organogenesis of CHDs. Single-cell transcriptomics data reveal the expression of genes associated with CHD in specific cell lineages, and emerging evidence suggests that genetic variants disrupt multicellular genes essential for cardiogenesis. Metrics and units are being tracked in whole genome sequence studies.
Keywords
congenital heart disease; first heart field; second heart field; whole exome sequencing; whole genome sequencing; loss-of-function variant; copy number variants; gene variants; deletion; de novo mutations
Subject
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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