CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.

Autor: Krysiak K; Department of Pathology and Immunology, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Danos AM; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Saliba J; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., McMichael JF; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Coffman AC; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Kiwala S; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Barnell EK; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Sheta L; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Grisdale CJ; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada., Kujan L; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Pema S; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Lever J; School of Computer Science, University of Glasgow, Glasgow, UK., Ridd S; Department of Medicine, Division of Medical Oncology, University Health Network, Toronto, Ontario, Canada., Spies NC; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Andric V; Department of Medicine, Division of Medical Oncology, University Health Network, Toronto, Ontario, Canada., Chiorean A; Department of Medicine, Division of Medical Oncology, University Health Network, Toronto, Ontario, Canada., Rieke DT; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Clark KA; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Reisle C; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.; Bioinformatics Graduate Program, Faculty of Science, University of British Columbia, Vancouver, BC, Canada., Venigalla AC; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Evans M; Caris Life Sciences, Phoenix, AZ, USA., Jani P; Department of Medicine, Division of Medical Oncology, University Health Network, Toronto, Ontario, Canada., Takahashi H; Department of Experimental Therapeutics/Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital East, Kashiwa, Japan., Suda A; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Horak P; Department of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany., Ritter DI; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX, USA., Zhou X; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Ainscough BJ; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Delong S; Lassonde School of Engineering, York University, Toronto, Ontario, Canada., Kesserwan C; Department of Pathology, NYU Grossman School of Medicine, New York, NY, USA and Genetics Branch, National Cancer Institute, National Institute of Health, Bethesda, MD, USA., Lamping M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Shen H; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Marr AR; Department of Pathology and Immunology, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Hoang MH; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Singhal K; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Khanfar M; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Li BV; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Lin WH; Mayo Clinic Florida, Jacksonville, FL, USA., Terraf P; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Corson LB; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Salama Y; Department of Medicine, Division of Medical Oncology, University Health Network, Toronto, Ontario, Canada., Campbell KM; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Farncombe KM; Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada., Ji J; Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Xu X; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Kanagal-Shamanna R; Department of Hematopathology and Molecular Diagnostics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., King I; Division of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network (UHN), Toronto, ON, Canada., Cotto KC; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Skidmore ZL; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Walker JR; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Zhang J; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Patel RY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Giles RH; International Kidney Cancer Coalition, Duivendrecht-Amsterdam, the Netherlands., Kim RH; Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Sinai Health System, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Ontario Institute for Cancer Research, Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Schriml LM; University of Maryland School of Medicine, Baltimore, MD, USA., Mardis ER; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Departments of Pediatrics and Neurosurgery, The Ohio State University College of Medicine, Columbus, OH, USA., Jones SJM; Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada., Raca G; Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA., Rao S; Innovation Center for Biomedical Informatics, Georgetown University Medical Center, WA DC, USA., Madhavan S; Innovation Center for Biomedical Informatics, Georgetown University Medical Center, WA DC, USA., Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Departments of Pediatrics and Biomedical Informatics, The Ohio State University College of Medicine, Columbus, OH, USA., Griffith M; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University in St Louis School of Medicine, St. Louis, MO, USA., Griffith OL; McDonnell Genome Institute, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University in St Louis School of Medicine, St. Louis, MO, USA.
Jazyk: angličtina
Zdroj: Nucleic acids research [Nucleic Acids Res] 2023 Jan 06; Vol. 51 (D1), pp. D1230-D1241.
DOI: 10.1093/nar/gkac979
Abstrakt: CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more prevalent in cancer management, the need for cancer variant interpretation has grown beyond the capability of any single institution. CIViC contains peer-reviewed, published literature curated and expertly-moderated into structured data units (Evidence Items) that can be accessed globally and in real time, reducing barriers to clinical variant knowledge sharing. We have extended CIViC's functionality to support emergent variant interpretation guidelines, increase interoperability with other variant resources, and promote widespread dissemination of structured curated data. To support the full breadth of variant interpretation from basic to translational, including integration of somatic and germline variant knowledge and inference of drug response, we have enabled curation of three new Evidence Types (Predisposing, Oncogenic and Functional). The growing CIViC knowledgebase has over 300 contributors and distributes clinically-relevant cancer variant data currently representing >3200 variants in >470 genes from >3100 publications.
(© The Author(s) 2022. Published by Oxford University Press on behalf of Nucleic Acids Research.)
Databáze: MEDLINE