Genetic screening can boost congenital heart disease detection

A recent study published in Frontiers in Genetics demonstrates that combining copy number variants sequencing (CNVs-seq) and whole exome sequencing (WES) is effective in detecting congenital heart disease (CHD). CHDs are the most prevalent birth defects and a leading cause of newborn mortality, often linked to pathogenic copy number variations (pCNVs).

This article was originally published on MedicalXpress.com

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