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CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing.

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第一作者： Milovan,Suvakov

第一单位： Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.

作者： Milovan,Suvakov ^[1] ; Arijit,Panda ^[1] ; Colin,Diesh ^[2] ; Ian,Holmes ^[2] ; Alexej,Abyzov ^[1]

作者单位： Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA. ^[1] Department of Bioengineering, University of California, Berkeley, CA 94720, USA. ^[2]

关键词 Python copy number alternations copy number variations whole-genome sequencing

医学主题词等位基因(Alleles);DNA拷贝数变异(DNA Copy Number Variations);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);序列分析, DNA(Sequence Analysis, DNA);软件(Software)

DOI 10.1093/gigascience/giab074

PMID 34817058

发布时间 2024-11-17

基金项目

U24 CA220242/CA/NCI NIH HHS/United States

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