CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

Nature Genetics

Volumn 49, Issue 2, 2017, Pages 170-174

  Griffith, Malachi ^a,b   Spies, Nicholas C ^a   Krysiak, Kilannin ^a   McMichael, Joshua F ^a   Coffman, Adam C ^a   Danos, Arpad M ^a   Ainscough, Benjamin J ^a,b   Ramirez, Cody A ^a   Rieke, Damian T ^c   Kujan, Lynzey ^a   Barnell, Erica K ^a   Wagner, Alex H ^a,b   Skidmore, Zachary L ^a   Wollam, Amber ^a   Liu, Connor J ^a   Jones, Martin R ^d   Bilski, Rachel L ^a   Lesurf, Robert ^a   Feng, Yan Yang ^a   Shah, Nakul M ^a   Bonakdar, Melika ^d   Trani, Lee ^a   Matlock, Matthew ^a   Ramu, Avinash ^a   Campbell, Katie M ^a   Spies, Gregory C ^a   Graubert, Aaron P ^a   Gangavarapu, Karthik ^e   Eldred, James M ^a   Larson, David E ^a   Walker, Jason R ^a   Good, Benjamin M ^e   Wu, Chunlei ^e   Su, Andrew I ^e   Dienstmann, Rodrigo ^f   Margolin, Adam A ^g   Tamborero, David ^h   Lopez Bigas, Nuria ^h   Jones, Steven J M ^d   Bose, Ron ^a   Spencer, David H ^a   Wartman, Lukas D ^a,b   Wilson, Richard K ^a,b   Mardis, Elaine R ^a,b   Griffith, Obi L ^a,b   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b USA   (United States)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d BRITISH COLUMBIA CANCER AGENCY   (Canada)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

^f VALL D HEBRON UNIVERSITY HOSPITAL   (Spain)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h INSTITUTE FOR RESEARCH IN BIOMEDICINE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE MYELOID LEUKEMIA; BREAST CANCER; CANCER CLASSIFICATION; CANCER DIAGNOSIS; CANCER PROGNOSIS; CANCER THERAPY; CLINICAL INTERPRETATION OF VARIANTS IN CANCER; COLORECTAL CANCER; CROWDSOURCING; DISEASE ONTOLOGY; DNA POLYMORPHISM; EXOME; GENE EXPRESSION; GERMLINE MUTATION; HEMATOLOGIC MALIGNANCY; HUMAN; KNOWLEDGE BASE; LUNG CANCER; MOLECULARLY TARGETED THERAPY; NOTE; PERSONALIZED MEDICINE; PRIORITY JOURNAL; RNA SEQUENCE; SKIN CANCER; SOMATIC MUTATION; TREATMENT RESPONSE; WHOLE GENOME SEQUENCING; GENETIC VARIATION; GENETICS; MUTATION; NEOPLASM; PROCEDURES;

CROWDSOURCING; GENETIC VARIATION; HUMANS; KNOWLEDGE BASES; MUTATION; NEOPLASMS;

EID: 85011275698     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3774     Document Type: Note

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29. Landrum, M.J., et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 441, D862-D868 (2016).
30. Rehm, H.L., et al. ClinGen-the Clinical Genome Resource. N. Engl. J. Med. 372, 2235-2242 (2015).
31. Thorn, C.F., Klein, T.E., Altman, R.B. PharmGKB: the Pharmacogenomics Knowledge Base. Methods Mol. Biol. 1015, 311-320 (2013).
32. Damodaran, S., et al. Cancer Driver Log (CanDL): catalog of potentially actionable cancer mutations. J. Mol. Diagn. 17, 554-559 (2015).
33. Yeh, P., et al. DNA-Mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): a catalog of clinically relevant cancer mutations to enable genome-directed anticancer therapy. Clin. Cancer Res. 19, 1894-1901 (2013).
34. Patterson, S.E., et al. The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. Hum. Genomics 10, 4 (2016).
35. Xin, J., et al. High-performance web services for querying gene and variant annotation. Genome Biol. 17, 91 (2016).
36. Forbes, S.A., et al. COSMIC: somatic cancer genetics at high-resolution. Nucleic Acids Res. 45, D777-D783 (2017).
37. Karczewski, K.J., et al. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 45, D840-D845 (2017).
38. Kibbe, W.A., et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Res. 43, D1071-D1078 (2015).
39. Eilbeck, K., et al. The Sequence Ontology: a tool for the unification of genome annotations. Genome Biol. 6, R44 (2005).
40. Gagan, J., Van Allen, E.M. Next-generation sequencing to guide cancer therapy. Genome Med. 7, 80 (2015).
41. Speir, M.L., et al. The UCSC Genome Browser database: 2016 update. Nucleic Acids Res. 441, D717-D725 (2016).
42. Laskin, J., et al. Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers. Cold Spring Harb. Mol. Case Stud. 1, a000570 (2015).
43. Parnell, L.D., et al. BioStar: an online question & answer resource for the bioinformatics community. PLOS Comput. Biol. 7, e1002216 (2011).
44. Amendola, L.M., et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am. J. Hum. Genet. 98, 1067-1076 (2016).
45. Richards, S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-424 (2015).
46. Ritter, D.I., et al. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 8, 117 (2016).