modSaRa: a computationally efficient R package for CNV identification.
basic_science · Level V
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- Record sourced from PubMed, PMID 28453611.
- Also identified by DOI 10.1093/bioinformatics/btx212 and PMC identifier 5860124.
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Abstract
Chromosomal copy number variation (CNV) refers to a polymorphism that a DNA segment presents deletion or duplication in the population. The computational algorithms developed to identify this type of variation are usually of high computational complexity. Here we present a user-friendly R package, modSaRa, designed to perform copy number variants identification. The package is developed based on a change-point based method with optimal computational complexity and desirable accuracy. The current version of modSaRa package is a comprehensive tool with integration of preprocessing steps and main CNV calling steps. modSaRa is an R package written in R, C ++ and Rcpp and is now freely available for download at http://c2s2.yale.edu/software/modSaRa . heping.zhang@yale.edu. Supplementary data are available at Bioinformatics online.
Medical subject headings
- DNA Copy Number Variations
- Sequence Analysis, DNA
- Software