A community approach to the cancer-variant-interpretation bottleneck Editorial


Authors: Krysiak, K.; Danos, A. M.; Kiwala, S.; McMichael, J. F.; Coffman, A. C.; Barnell, E. K.; Sheta, L.; Saliba, J.; Grisdale, C. J.; Kujan, L.; Pema, S.; Lever, J.; Spies, N. C.; Chiorean, A.; Rieke, D. T.; Clark, K. A.; Jani, P.; Takahashi, H.; Horak, P.; Ritter, D. I.; Zhou, X.; Ainscough, B. J.; Delong, S.; Lamping, M.; Marr, A. R.; Li, B. V.; Lin, W. H.; Terraf, P.; Salama, Y.; Campbell, K. M.; Farncombe, K. M.; Ji, J.; Zhao, X.; Xu, X.; Kanagal-Shamanna, R.; Cotto, K. C.; Skidmore, Z. L.; Walker, J. R.; Zhang, J.; Milosavljevic, A.; Patel, R. Y.; Giles, R. H.; Kim, R. H.; Schriml, L. M.; Mardis, E. R.; Jones, S. J. M.; Raca, G.; Rao, S.; Madhavan, S.; Wagner, A. H.; Griffith, O. L.; Griffith, M.
Title: A community approach to the cancer-variant-interpretation bottleneck
Keywords: unclassified drug; somatic mutation; note; comparative study; neoplasm; neoplasms; gene; classification; genetic variability; genetic variation; evidence based practice; evolution; practice guideline; renal cell carcinoma; health service; tumor suppressor gene; fibrosarcoma; microsatellite instability; medical research; brain derived neurotrophic factor; carcinogenicity; feedback system; pathogenicity; von hippel lindau disease; decision making; genetic predisposition; community care; knowledge; transcription factor etv6; copy number variation; phase 1 clinical trial (topic); responsibility; cancer genome atlas; workflow; american society of clinical oncology; humans; human; whole exome sequencing; gene editing; precision oncology; malignant neoplasm; larotrectinib; application programming interface; ntrk gene; international cancer genome consortium; association for molecular pathology; interpretation bias; tyrosine receptor kinase 1; tyrosine receptor kinase 2; tyrosine receptor kinase 3; bottleneck population; cancer variant; clingen somatic cancer variant curation expert panels; clinical interpretation of variants in cancer; genome mining; germ line gene therapy; medical genomics japan variant database; network data exchange
Journal Title: Nature Cancer
Volume: 3
Issue: 5
ISSN: 2662-1347
Publisher: Nature Research  
Date Published: 2022-05-01
Start Page: 522
End Page: 525
Language: English
DOI: 10.1038/s43018-022-00379-w
PUBMED: 35624339
PROVIDER: scopus
DOI/URL:
Notes: Note -- Export Date: 1 July 2022 -- Source: Scopus
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  1. Panieh Terraf
    19 Terraf