copy number variant

copy number variant

A long stretch of DNA base pairs that is repeated several times in the chromosomes of some people, usually those of similar ethnic, geographic, or racial origins.
References in periodicals archive ?
The identification of a copy number variant as a genetic mechanism of disease is novel and the discovery of altered activity of alpha-defensins in IgAN pathogenesis suggests potential new avenues for therapy," said Prof Thomas Coffman, Dean of the Duke-NUS Medical School.
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.
Also, sometimes a copy number variant or deletion or duplication is found, and it is unclear how these should be interpreted.
2011), and copy number variant studies have identified several hundred copy number variants putatively linked to autism (Fernandez a al.
21) A copy number variant of the amylase gene, which is involved in starch digestion, was recently reported to be much more common among populations with a traditionally high starch diet.
We set out to understand microarray platform differences in copy number variant (CNV) detection but because of PDx's technical contribution, which delineates benign variants from those that are pathogenic, we were able to effectively interpret the genome at a higher resolution than obtained with previously utilized microarrays.
A total of 10 of 10 known alterations (5 indels, 3 single-nucleotide variants, 1 copy number variant, and 1 structural variant) were detected in the tumor tissues irrespective of initial DNA input.
In the context of cancer, copy number variant analysis is particularly difficult.
As many as 15% of patients with an otherwise normal karyotype will have a clinically significant copy number variant (CNV) on microarray.
Both customizable arrays include content important for disease research, including association studies and copy number variant discovery and analysis.
In addition, they address validation of NGS for copy number variant analysis of gene deletions and amplifications, which commonly occur in cancer.
Contract Notice: The West of Scotland Genetics Service based at the Queen Elizabeth University Hospital as part of NHS Greater Glasgow and Clyde invites companies to submit responses against the following specification for the supply of a system for the delivery of a DNA microarray service for copy number variant detection for our genetic services.