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A platform for oncogenomic reporting and interpretation.
Reisle, Caralyn; Williamson, Laura M; Pleasance, Erin; Davies, Anna; Pellegrini, Brayden; Bleile, Dustin W; Mungall, Karen L; Chuah, Eric; Jones, Martin R; Ma, Yussanne; Lewis, Eleanor; Beckie, Isaac; Pham, David; Matiello Pletz, Raphael; Muhammadzadeh, Amir; Pierce, Brandon M; Li, Jacky; Stevenson, Ross; Wong, Hansen; Bailey, Lance; Reisle, Abbey; Douglas, Matthew; Bonakdar, Melika; Nelson, Jessica M T; Grisdale, Cameron J; Krzywinski, Martin; Fisic, Ana; Mitchell, Teresa; Renouf, Daniel J; Yip, Stephen; Laskin, Janessa; Marra, Marco A; Jones, Steven J M.
Afiliação
  • Reisle C; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Williamson LM; Bioinformatics Graduate Program, Faculty of Science, University of British Columbia, Vancouver, BC, Canada.
  • Pleasance E; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Davies A; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Pellegrini B; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Bleile DW; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Mungall KL; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Chuah E; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Jones MR; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Ma Y; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Lewis E; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Beckie I; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Pham D; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Matiello Pletz R; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Muhammadzadeh A; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Pierce BM; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Li J; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Stevenson R; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Wong H; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Bailey L; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Reisle A; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Douglas M; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Bonakdar M; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Nelson JMT; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Grisdale CJ; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Krzywinski M; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Fisic A; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.
  • Mitchell T; Department of Medical Oncology, BC Cancer, Vancouver, BC, Canada.
  • Renouf DJ; Department of Medical Oncology, BC Cancer, Vancouver, BC, Canada.
  • Yip S; Pancreas Centre BC, Vancouver, BC, Canada.
  • Laskin J; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Marra MA; Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Jones SJM; Department of Medical Oncology, BC Cancer, Vancouver, BC, Canada.
Nat Commun ; 13(1): 756, 2022 02 09.
Article em En | MEDLINE | ID: mdl-35140225
Manual interpretation of variants remains rate limiting in precision oncology. The increasing scale and complexity of molecular data generated from comprehensive sequencing of cancer samples requires advanced interpretative platforms as precision oncology expands beyond individual patients to entire populations. To address this unmet need, we introduce a Platform for Oncogenomic Reporting and Interpretation (PORI), comprising an analytic framework that facilitates the interpretation and reporting of somatic variants in cancer. PORI integrates reporting and graph knowledge base tools combined with support for manual curation at the reporting stage. PORI represents an open-source platform alternative to commercial reporting solutions suitable for comprehensive genomic data sets in precision oncology. We demonstrate the utility of PORI by matching 9,961 pan-cancer genome atlas tumours to the graph knowledge base, calculating therapeutically informative alterations, and making available reports describing select individual samples.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carcinogênese / Neoplasias Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carcinogênese / Neoplasias Idioma: En Ano de publicação: 2022 Tipo de documento: Article