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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 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.

SUBMITTER: Spurr LF

PROVIDER: S-EPMC8388019 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Quantification of aneuploidy in targeted sequencing data using ASCETS.

Spurr Liam F LF Touat Mehdi M Taylor Alison M AM Dubuc Adrian M AM Shih Juliann J Meredith David M DM Pisano William V WV Meyerson Matthew L ML Ligon Keith L KL Cherniack Andrew D AD Li Yvonne Y YY Beroukhim Rameen R

Bioinformatics (Oxford, England) 20210801 16

<h4>Summary</h4>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.<h4>Availability and implementation</h4>ASCETS is implemented in R and is freely available to non-commercial users on GitHub: https://github.com/beroukhim-lab/ascets, ...[more]

PMID: 33247715

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