Quantification of aneuploidy in targeted sequencing data using ASCETS.
basic_science · Level V
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- Record sourced from PubMed, PMID 33247715.
- Also identified by DOI 10.1093/bioinformatics/btaa980 and PMC identifier 8388019.
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Abstract
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. 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 data are available at Bioinformatics online.
Medical subject headings
- Aneuploidy
- Software