Objective: The purpose of this study was to explore the detection rate of chromosomal copy number variants (CNVs) in fetuses with isolated and non-isolated increased nuchal translucency (NT) by ...

A recent study highlights how DNA microarray technology enables high-throughput gene analysis, supporting variation detection, expression profiling, and clinical research. By refining probe design and ...

With the release of 2025-26 Topps Basketball on the horizon, Topps recently announced another chase element of the product that collectors can look out for: a rare number variation parallel. The cards ...

Abstract: Copy number variations are crucial in cancer research, but their detection through next-generation sequencing is often hindered by read biases, particularly in complex genomic regions.

Objective: Chromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray ...

Abstract: DNA copy number variations (CNV) carry information on the mis-regulation of DNA replication in cancer cells, making the study of CNVs an indispensable component of cancer genome analysis.

Sawfish is a joint structural variant (SV) and copy number variant (CNV) caller for mapped HiFi sequencing reads. It discovers germline structural variants from local sequence assembly and jointly ...

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...