Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …

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 …

Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of
hereditary disease and cancer, as well as in normal human interindividual variation …

Background Reproducibility is receiving increased attention across many domains of
science and genomics is no exception. Efforts to identify copy number variations (CNVs) …

Copy number variation (CNV) is a class of key biomarkers in many complex traits and
diseases. Detecting CNV from sequencing data is a substantial bioinformatics problem and …

Abstract Next-generation sequencing (NGS)-based circulating tumor DNA (ctDNA) assays
have provided a new method of identifying tumor-driving genes in patients with advanced …

Rett syndrome (RTT) is a rare, severe disorder of neuronal plasticity that predominantly
affects girls. Girls with RTT usually appear asymptomatic in the first 6–18 months of life, but …

Copy number variation (CNV) is a genomic mutation that plays an important role in tumor
evolution and tumor genesis. Accurate detection of CNVs from next-generation sequencing …

Like many clinical diagnostic laboratories, the Yorkshire Regional Genetics Service
undertakes routine investigation of cancer-predisposed individuals by high-throughput …