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DeTiN: overcoming tumor-in-normal contamination.
Taylor-Weiner, Amaro; Stewart, Chip; Giordano, Thomas; Miller, Mendy; Rosenberg, Mara; Macbeth, Alyssa; Lennon, Niall; Rheinbay, Esther; Landau, Dan-Avi; Wu, Catherine J; Getz, Gad.
Afiliação
  • Taylor-Weiner A; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Stewart C; Harvard University, Cambridge, MA, USA.
  • Giordano T; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Miller M; Department of Pathology, University of Michigan, Ann Arbor, MI, USA.
  • Rosenberg M; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Macbeth A; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Lennon N; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Rheinbay E; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Landau DA; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Wu CJ; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
  • Getz G; Department of Medicine, Weill Cornell Medicine, New York, NY, USA.
Nat Methods ; 15(7): 531-534, 2018 07.
Article em En | MEDLINE | ID: mdl-29941871
ABSTRACT
Comparison of sequencing data from a tumor sample with data from a matched germline control is a key step for accurate detection of somatic mutations. Detection sensitivity for somatic variants is greatly reduced when the matched normal sample is contaminated with tumor cells. To overcome this limitation, we developed deTiN, a method that estimates the tumor-in-normal (TiN) contamination level and, in cases affected by contamination, improves sensitivity by reclassifying initially discarded variants as somatic.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Neoplasias Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Neoplasias Idioma: En Ano de publicação: 2018 Tipo de documento: Article