Background Whole-exome sequencing (WES) consists in the capture, sequencing and
analysis of all exons in the human genome. Originally developed in the research context …

Introduction: In 2004, the implementation of array comparative genomic hybridization (array
comparative genome hybridization [CGH]) into clinical practice marked a new milestone for …

Purpose: Chromosomal microarray analysis is the gold standard for copy-number variant
(CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next …

Purpose Emerging studies suggest that low-pass genome sequencing (GS) provides
additional diagnostic yield of clinically significant copy-number variants (CNVs) compared …

Shallow whole-genome sequencing to infer copy number alterations (CNAs) in the human
genome is rapidly becoming the method par excellence for routine diagnostic use …

Background Whole exome sequencing (WES) has been widely accepted as a robust and
cost-effective approach for clinical genetic testing of small sequence variants. Detection of …

Background Copy number variation (CNV) analysis is an integral component of the study of
human genomes in both research and clinical settings. Array-based CNV analysis is the …

Background Next-generation sequencing is emerging as a viable alternative to chromosome
microarray analysis for the diagnosis of chromosome disease syndromes. One next …

Objective To determine the type and frequency of pathogenic chromosomal abnormalities in
fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray …

DNA copy number variants (CNVs) account for approximately 300 Mb of sequence variation
in the normal human genome. Significant numbers of pathogenic CNVs contribute toward …