A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test
has been accurate detection of copy-number variations (CNVs). Here, we used several …

Copy number variation (CNV) is a common source of genetic variation that has been
implicated in many genomic disorders. This has resulted in the widespread application of …

Sequencing of gene-coding regions (the exome) is increasingly used for studying human
disease, for which copy-number variants (CNVs) are a critical genetic component. However …

Simple Summary Copy-number variations (CNVs) have important clinical implications for
several diseases and cancers. We reviewed 50 popular CNV calling tools and included 11 …

Many laboratories now use genomic microarrays as their first-tier diagnostic test for copy
number variation (CNV) detection. In addition, whole exome sequencing is increasingly …

Background Exon-targeted microarrays can detect small (< 1000 bp) intragenic copy
number variants (CNVs), including those that affect only a single exon. This genome-wide …

Methods for the direct detection of copy number variation (CNV) genome-wide have become
effective instruments for identifying genetic risk factors for disease. The application of next …

Purpose Current diagnostic testing for genetic disorders involves serial use of specialized
assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all …

We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …

To assess the potential of detecting copy number variations (CNVs) directly from exome
sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based …