Copy number variations (CNVs) are a pervasive form of genomic variation that entail duplications or deletions of DNA segments ranging from kilobases to megabases. In animal genomes, CNVs contribute ...

Had to link to a paper with such a title. Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes: ...SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic ...

A research team led by Associate Professor Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL) has developed a sensitive way of identifying gene copy number variations (CNVs). The method, ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

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 ...