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modSaRa: a computationally efficient R package for CNV identification
Author(s) -
Feifei Xiao,
Yue Niu,
Ning Hao,
Yanxun Xu,
Zhilin Jin,
Heping Zhang
Publication year - 2017
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btx212
Subject(s) - preprocessor , computer science , copy number variation , r package , identification (biology) , software package , software , computational complexity theory , population , algorithm , artificial intelligence , programming language , biology , genetics , genome , botany , demography , sociology , gene
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.

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