CopyMap: localization and calling of copy number variation by joint analysis of hybridization data from multiple individuals.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 20926418.
- Also identified by DOI 10.1093/bioinformatics/btq515 and PMC identifier 2981497.
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Abstract
The program package CopyMap identifies copy number variation from oligo-hybridization and CGH data. Using a time-dependent hidden Markov model to combine evidence of copy number variants (CNVs) across multiple carriers, CopyMap is substantially more accurate than standard hidden Markov methods in identifying CNVs and calling CNV-carriers. Moreover, CopyMap provides more precise estimates of CNV-boundaries. The C-source code and detailed documentation for the program CopyMap is available on the Internet at http://www.sph.umich.edu/csg/szoellner/
Medical subject headings
- Gene Dosage
- Genetic Variation
- Software