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 ?
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.
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.
8% of stillbirths, whereas CMA detected aneuploidy or a pathogenic copy number variant (CNV) in 8.
2011), and copy number variant studies have identified several hundred copy number variants putatively linked to autism (Fernandez a al.
VANCOUVER and BOZEMAN, Montana, October 12, 2010 /PRNewswire/ -- Sirius Genomics, a developer of companion diagnostics, and Golden Helix, a global leader in genetic analysis solutions, announced today a collaboration under which Golden Helix will apply its expertise and technologies in SNP and copy number variant analysis and predictive modeling to advance development of Sirius' diagnostic pipeline.
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.
This area is still under development, however, and we expect more copy number variant algorithms tuned for optimal performance to be available very soon.
Both customizable arrays include content important for disease research, including association studies and copy number variant discovery and analysis.
Furthermore, DNA methylation analysis studies, copy number variant screening (CNV), and amplicon generation for next generation sequencing are part of the planned experiments.
The latter study was the first ever to find a specific copy number variant that predisposes to a human cancer.
A copy number variant (CNV) is a region larger than 1 Kb with a variable copy number compared to a reference genome.