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.
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.