Glossary Term
Copy Number Polymorphism
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
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Glossary Term
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
Technology
A molecular cytogenetic method combining chromosomal comparative genomic hybridization technique and microarray to detect chromosomal aberrations and changes in DNA copy numbers in the genome, using oligonucleotides immobilized on a solid support as targets for hybridization.
Technology
Comparative genomic hybridization (CGH) is a technique that allows the detection of losses and gains in DNA copy number across the entire genome without prior knowledge of specific chromosomal abnormalities. Comparative genomic hybridization utilizes the hybridization of differentially labeled tumor and reference DNA to generate a map of DNA copy number changes in tumor genomes. Comparative genomic hybridization is an ideal tool for analyzing chromosomal imbalances in archived tumor material and for examining possible correlations between these findings and tumor phenotypes. (from Ried et al. J Mol Med 1997 75:801-14)
Technology
A type of high-throughput, multiplex PCR method used to determine abnormal DNA copy number changes of up to 50 genomic DNA or RNA sequences with a single pair of PCR primers. It is frequently used in the detection of genetic aberrations in tumors, and can distinguish sequences differing in only a single nucleotide.
Artículo
Research record from Blood Cancer J, 2026-03-28. PMID 41904132.
Artículo
Research record from Pediatr Investig, 2026-07-31. PMID 42540776.
Artículo
Research record from Mod Pathol, 2026-04-21. PMID 42025847.
Glossary Term
A PCR format that partitions each sample into thousands of sub-reactions and calls each partition positive or negative, giving absolute quantification without a standard curve. Useful for low-level targets, copy-number work, and reference material characterization; throughput and per-test cost differ from qPCR.
Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Artículo
Research record from Chin Med J (Engl), 2026-03-06. PMID 41796055.