Quantification of aneuploidy in targeted sequencing data using ASCETS.

Bioinformatics
Authors
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: ASCETS is implemented in R and is freely available to non-commercial users on GitHub: , along with detailed documentation.

SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Year of Publication
2020
Journal
Bioinformatics
Date Published
2020 Nov 28
ISSN
1367-4811
DOI
10.1093/bioinformatics/btaa980
PubMed ID
33247715
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