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Standard operating procedure for curation and clinical interpretation of variants in cancer.
Genome Medicine ( IF 12.3 ) Pub Date : 2019-11-29 , DOI: 10.1186/s13073-019-0687-x
Arpad M Danos 1 , Kilannin Krysiak 1, 2 , Erica K Barnell 1, 3 , Adam C Coffman 1 , Joshua F McMichael 1 , Susanna Kiwala 1 , Nicholas C Spies 1 , Lana M Sheta 1 , Shahil P Pema 1 , Lynzey Kujan 1 , Kaitlin A Clark 1 , Amber Z Wollam 1 , Shruti Rao 4 , Deborah I Ritter 5 , Dmitriy Sonkin 6 , Gordana Raca 7 , Wan-Hsin Lin 8 , Cameron J Grisdale 9 , Raymond H Kim 10 , Alex H Wagner 1, 3 , Subha Madhavan 4, 11 , Malachi Griffith 1, 3, 12, 13 , Obi L Griffith 1, 3, 12, 13
Affiliation  

Manually curated variant knowledgebases and their associated knowledge models are serving an increasingly important role in distributing and interpreting variants in cancer. These knowledgebases vary in their level of public accessibility, and the complexity of the models used to capture clinical knowledge. CIViC (Clinical Interpretation of Variants in Cancer - www.civicdb.org) is a fully open, free-to-use cancer variant interpretation knowledgebase that incorporates highly detailed curation of evidence obtained from peer-reviewed publications and meeting abstracts, and currently holds over 6300 Evidence Items for over 2300 variants derived from over 400 genes. CIViC has seen increased adoption by, and also undertaken collaboration with, a wide range of users and organizations involved in research. To enhance CIViC's clinical value, regular submission to the ClinVar database and pursuit of other regulatory approvals is necessary. For this reason, a formal peer reviewed curation guideline and discussion of the underlying principles of curation is needed. We present here the CIViC knowledge model, standard operating procedures (SOP) for variant curation, and detailed examples to support community-driven curation of cancer variants.

中文翻译:

癌症变体的治愈和临床解释的标准操作程序。

手动策划的变异知识库及其相关的知识模型在分发和解释癌症变异中起着越来越重要的作用。这些知识库的公共可访问性级别以及用于捕获临床知识的模型的复杂性各不相同。CIViC(癌症变体的临床解释-www.civicdb.org)是一个完全开放的,免费使用的癌症变体解释知识库,其中包含从同行评审的出版物和会议摘要中获得的详细证据,目前仍在保留6300个证据项目,涉及来自400多个基因的2300多个变体。CIViC已经被参与研究的众多用户和组织采用并与之进行合作。为了提高CIViC的临床价值,定期将其提交至ClinVar数据库,并寻求其他监管机构的批准。因此,需要正式的同行评审策展指南并讨论策展的基本原理。我们在这里介绍CIViC知识模型,变体治愈的标准操作程序(SOP),以及支持社区驱动的癌症变体治愈的详细示例。
更新日期:2020-04-22
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