Quantification of aneuploidy in targeted sequencing data using ASCETS

Abstract Summary The expansion of targeted panel sequencing efforts has created opportunities for large-scale genomic analysis, but tools for copy-number quantification on panel data are lacking. We introduce ASCETS, a method for the efficient quantitation of arm and chromosome-level copy-number cha...

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Bibliographic Details
Published in:Bioinformatics (Oxford, England) England), 2021-08, Vol.37 (16), p.2461-2463
Main Authors: Spurr, Liam F, Touat, Mehdi, Taylor, Alison M, Dubuc, Adrian M, Shih, Juliann, Meredith, David M, Pisano, William V, Meyerson, Matthew L, Ligon, Keith L, Cherniack, Andrew D, Li, Yvonne Y, Beroukhim, Rameen
Format: Article
Language:English
Subjects:
Aneuploidy
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Bioinformatics
Documentation
Genome
Genomic analysis
Genomics
Human health and pathology
Humans
Life Sciences
Sequences
Software
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Summary:Abstract Summary The expansion of targeted panel sequencing efforts has created opportunities for large-scale genomic analysis, but tools for copy-number quantification on panel data are lacking. We introduce ASCETS, a method for the efficient quantitation of arm and chromosome-level copy-number changes from targeted sequencing data. Availability and implementation ASCETS is implemented in R and is freely available to non-commercial users on GitHub: https://github.com/beroukhim-lab/ascets, along with detailed documentation. Supplementary information Supplementary data are available at Bioinformatics online.
ISSN:1367-4803
1367-4811
DOI:10.1093/bioinformatics/btaa980