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CNValidator: validating somatic copy-number inference.

07:00 EST 12th December 2018 | BioPortfolio

Summary of "CNValidator: validating somatic copy-number inference."

CNValidator assesses the quality of somatic copy number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy number calling algorithm which makes calls independently for each sample. This test is useful in assessing the accuracy of copy number calls, as well as choosing among alternative copy number algorithms or tuning parameter values.

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Name: Bioinformatics (Oxford, England)
ISSN: 1367-4811
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Medical and Biotech [MESH] Definitions

Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.

Compositions written by hand, as one written before the invention or adoption of printing. A manuscript may also refer to a handwritten copy of an ancient author. A manuscript may be handwritten or typewritten as distinguished from a printed copy, especially the copy of a writer's work from which printed copies are made. (Webster, 3d ed)

A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

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