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Updated: Nov 28, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Quantification of aneuploidy in targeted sequencing data using ASCETS
Liam F Spurr1,2, Mehdi Touat2,3,4, Alison M Taylor1,2,5
1Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
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.
