Whole exome sequencing (WES), variant filtering/interpretation and Copy Number Variant
analysis were performed in the proband to identify potential causative variants using previously published protocols (6).
Kim et al., "Reference-unbiased copy number variant
analysis using CGH microarrays," Nucleic Acids Research, vol.
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.
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.
This approach enabled the highly sensitive analytical detection and confirmation of CNVs in the STRC gene and eliminated the need to run the STRC allele-specific ddPCR on the many negative cases in which neither STRC nor pSTRC had a copy number variant
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant
and linkage scans.
As many as 15% of patients with an otherwise normal karyotype will have a clinically significant copy number variant
(CNV) on microarray.
 Nonstandard abbreviations: cfDNA, cell-free DNA; WGS, whole-genome sequencing; LFR, long fragment read; DNM, de novo mutation; CNV, copy number variant
; SV, structural variant; CADD, combined annotation-dependent depletion, ASD, autism spectrum disorder.
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 addition, they address validation of NGS for copy number variant
analysis of gene deletions and amplifications, which commonly occur in cancer.