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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase
Kilannin Krysiak1,2,3,4, Arpad M Danos2,4, Jason Saliba4
1Department of Pathology and Immunology, Washington University in St Louis School of Medicine, St. Louis, MO, USA.
Nucleic Acids Research
|November 14, 2022
Summary
The Clinical Interpretation of Variants in Cancer (CIViC) knowledgebase provides crowd-sourced, expert-curated data on cancer variants. It supports clinical decision-making by sharing structured evidence on variant utility and drug responses.
Area of Science:
- Genomics
- Oncology
- Bioinformatics
Background:
- Clinical sequencing for cancer management is rapidly expanding.
- Interpreting cancer variants requires extensive, up-to-date knowledge.
- No single institution can manage the growing volume of variant data.
Purpose of the Study:
- To enhance the CIViC knowledgebase for broader clinical utility.
- To support emergent variant interpretation guidelines and interoperability.
- To facilitate real-time global access to structured cancer variant data.
Main Methods:
- Crowd-sourced curation of peer-reviewed literature into structured Evidence Items.
- Expert moderation and quality control of curated data.
- Expansion of CIViC to include Predisposing, Oncogenic, and Functional Evidence Types.
Main Results:
- CIViC has over 300 contributors and >3100 publications.
- The knowledgebase includes >3200 variants across >470 genes.
- Enhanced functionality supports somatic and germline variant interpretation and drug response inference.
Conclusions:
- CIViC effectively aggregates and disseminates clinical cancer variant knowledge.
- The platform reduces barriers to sharing and utilizing variant interpretation data.
- CIViC is a vital resource for translational cancer research and clinical practice.
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