Copy number variation is a general term used to refer to population-level genetic differences characterized by the gain or loss of specific regions of DNA in individual genomes. Individual copy number variants (CNVs) may be inherited in the germline, or acquired as somatic mutations as in cancer...
In this article, the author expresses his views on copy number variants as a risk factor for the idiopathic generalized epilepsies. He says that copy number variants cannot be detected through routine karyotyping but may be detected in high definition molecular techniques. Information ...
are known as copy number variants (CNVs). Many a times CNVs lead to dosage imbalances. For instance, we carry two copies of a gene, one comes from paternal side and other one from maternal. Sometimes, only one copy may be present and on the other hand three or more than three copies...
S. (2009) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Methods, 6, 99–103 Article PubMed CAS Google Scholar Yoon, S., Xuan, Z., Makarov, V., Ye, K. and Sebat, J. (2009) Sensitive and accurate detection of copy number variants using ...
DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-systematically categorized phenotypes, or larger cohorts (thousands of cases) with smaller number...
This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population
Definition Entries Near Cite this Entry Share Show less Save Word celioscopynounce·li·os·co·py variants or chiefly British coelioscopy ˌsē-lē-ˈäs-kə-pē plural celioscopies : examination of the abdominal cavity by surgical insertion of an endoscope through the...
So far, investigators have mainly studied the functional effects of somatic single nucleotide variants in TSGs. Copy number variation (CNV) is another important form of genetic variation, and is often involved in cancer biology and drug treatment, but studies of CNV in TSGs are less represented ...
(b) Selected mechanisms underlying disease effects of copy number losses (deletions). A gene is indicated by a contiguous monochromatic set of rectangles, and a regulatory element (e.g., promoter) by an oval. The definition of ‘gene’ extends beyond protein-coding genes to potentially include...
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN. Wellcome Open Res. 2016;1:20. Article PubMed PubMed Central CAS Google Scholar Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, et al. Detecting copy-number variations in whole...