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Quantification of aneuploidy in targeted sequencing data using ASCETS.
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.
Afiliação
  • Spurr LF; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
  • Touat M; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
  • Taylor AM; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
  • Dubuc AM; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
  • Shih J; Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Service de Neurologie, Paris, France.
  • Meredith DM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
  • Pisano WV; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
  • Meyerson ML; Department of Pathology and Cell Biology and Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, 10032 NY, USA.
  • Ligon KL; Department of Pathology, Brigham and Women's Hospital, Boston, 02215 MA, USA.
  • Cherniack AD; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA.
  • Li YY; Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, 02215 MA, USA.
  • Beroukhim R; Department of Pathology, Brigham and Women's Hospital, Boston, 02215 MA, USA.
Bioinformatics ; 37(16): 2461-2463, 2021 08 25.
Article em En | MEDLINE | ID: mdl-33247715
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Aneuploidia Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Aneuploidia Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article