Comparative studies of copy number variation
detection methods for next-generation sequencing technologies.
The development of array based comparative genomic hybridization methods provide convenience for detection of copy number variations
(CNVs) of some chromosomal regions including 15q13.2q13.3, 16p11.2, and 17p11.2 in ASD (2).
Recently, like other types of genetic variation, the impact of submicroscopic gene copy number variations
(CNVs) on human diseases has been investigated and found to be associated with susceptibility or resistance to many diseases (4).
Wang et al., "Association of TLR7 and TSHR copy number variation
with Graves' disease and Graves' ophthalmopathy in Chinese population in Taiwan," BMC Ophthalmology, vol.
CNV HAIs (n = 106) Controls (n = 109) 2 6 3 3 11 9 4 10 11 5 19 7 6 10 9 7 8 12 8 14 13 9 11 18 10 3 11 11 11 8 12 3 5 13 0 2 14 0 0 15 0 0 16 0 1 Median 6 8 * p value 0.017 CNV < 7 56 (52.8%) 39 (35.8%) CNV [??] 7 50 (47.2%) 70 (64.2%) # OR (95% CI) 2.010 (1.164-3.473) # p value 0.012 HAIs: hospital-acquired infections; n: number of subjects; CNV: copy number variation
. Risk was calculated using odds ratio (OR) (confidence interval (CI)).
The difference of the sAA level may be explained by AMY1 gene copy number variations
[27, 28]; we next determined the AMY1 gene copy number for each participant by qPCR.
In this study, we proposed an integrated framework named DriverFinder to identify driver genes by integrating somatic mutation data, copy number variations
(CNVs), tumor and normal expression data, and gene-gene interaction network.
Scherag et al., "Novel common copy number variation
for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis," Human Molecular Genetics, vol.
Clinical findings and genetic screening for copy number variation
mutations in a cohort of SA patients with Parkinson's disease (PD)
Its products are used in gene expression and copy number variation
(CNV) analysis, mutation detection, SNP genotyping, platform, and laboratory environment.
Copy number variation
is a common mutation in which large chunks of DNA are either deleted from or added to the genome.
Copy number variation
of chromosome 5A and its association with Q geneexpression,morphologicalaberrations, andagronomic performance of winter wheat cultivars.