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The new era of whole-exome sequencing in congenital heart disease: brand-new insights into rare pathogenic variants

   
@article{JTD21267,
	author = {Ares Pasipoularides},
	title = {The new era of whole-exome sequencing in congenital heart disease: brand-new insights into rare pathogenic variants},
	journal = {Journal of Thoracic Disease},
	volume = {10},
	number = {Suppl 17},
	year = {2018},
	keywords = {},
	abstract = {CHD is a complex developmental phenotype, with many genes contributing to its etiology; it affects about 1% of infants, and its genetic roots are multifarious and difficult to ascertain (1,2). Improvements in prenatal diagnosis, corrective procedures, and longitudinal support have reduced infantile mortality. Today, >75% of CHD children surviving beyond their 1st year, including those with complex malformations, will live into adulthood (3). Despite medical and surgical advances, CHD leads birth-defect mortality. Genetic factors have long been implicated, as children with genetic disorders are more prone to heart disease.},
	issn = {2077-6624},	url = {https://jtd.amegroups.org/article/view/21267}
}