CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing
Author(s) -
Milovan Šuvakov,
Arijit Panda,
Colin Diesh,
Ian Holmes,
Alexej Abyzov
Publication year - 2021
Publication title -
gigascience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.947
H-Index - 54
ISSN - 2047-217X
DOI - 10.1093/gigascience/giab074
Subject(s) - computer science , copy number variation , mit license , indel , structural variation , genomics , parsing , python (programming language) , source code , genome browser , 1000 genomes project , genome , biology , software , genetics , programming language , single nucleotide polymorphism , gene , genotype
Detecting copy number variations (CNVs) and copy number alterations (CNAs) based on whole-genome sequencing data is important for personalized genomics and treatment. CNVnator is one of the most popular tools for CNV/CNA discovery and analysis based on read depth.
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