Elucidating the Pathogenesis of Congenital Heart Disease in the Era of Next-Generation Sequencing View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2020-02-29

AUTHORS

Yu Nakagama , Ryo Inuzuka

ABSTRACT

Over the last decade, genetic screening has become increasingly available for patients with congenital heart disease (CHD). Chromosomal microarray has proved to be promising, particularly in the diagnosis of syndromic CHDs, and is now considered first-tier cytogenetic testing [1]. Whole-exome sequencing (WES) is another approach for genetic screening aimed towards identifying single-gene mutations [2]. Trio- and pedigree-based WES facilitate the identification of de novo and compound heterozygous variants throughout the entire coding region. Filtering of variants based on allele frequency, in silico predictions and segregation status, effectively narrows down the putative mutation. Thus, application of next-generation sequencing (NGS) has the potential of enhancing gene discovery in CHD pathogenesis. More... »

PAGES

397-398

Book

TITLE

Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension

ISBN

978-981-15-1184-4
978-981-15-1185-1

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-981-15-1185-1_65

DOI

http://dx.doi.org/10.1007/978-981-15-1185-1_65

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1125145435


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