Grant Details
| Grant Number: |
1U24CA305456-01 Interpret this number |
| Primary Investigator: |
Griffith, Obi |
| Organization: |
Washington University |
| Project Title: |
Accelerating the Expert-Crowdsourcing of Cancer Variant Interpretation in Civic |
| Fiscal Year: |
2025 |
Abstract
Project Summary
Precision oncology involves the use of prevention and treatment strategies tailored to the unique features of
each individual cancer patient and their disease. The number of molecular alterations or “variants” identified as
cancer drivers or linked to cancer prognosis, diagnosis, or drug response has exploded. As a result, cancer
care-givers are faced with a deluge of patient-specific variants that must be interpreted in the context of a vast
and growing biomedical literature describing their significance. Currently, these variant interpretations exist
largely in private or encumbered databases resulting in extensive repetition of effort. Widespread adoption of
precision medicine requires this knowledge to be centralized, standardized and expert-curated for application
in the clinic. To address this need, we created CIViC, a community-driven web resource for Clinical
Interpretation of Variants in Cancer, available online at civicdb.org. CIViC is uniquely distinguishable from other
resources due to its fully open access, rich data model, and large community of volunteer expert curators.
CIViC has been widely adopted by the community with many individual users, incorporated into numerous
academic and commercial workflows, as the official curation platform for ClinGen Somatic variant curation, and
as a Global Core Biodata Resource. Due to widespread adoption, CIViC has seen a dramatic increase in the
numbers of users integrating CIViC into their workflows and submissions of new content, which require expert
moderation and review. This proposal will sustain and build on the success of CIViC by developing and
implementing new features to accelerate dissemination of high-quality knowledge, and automate and increase
efficiency of biocuration and moderation. The curation interface will be improved for users including new variant
matching modules, cancer gene classifications, pre-submission of evidence to support journal submissions,
and automatic classification of pathogenicity or oncogenicity according to established guidelines. We will
develop an editorial toolbox to increase efficiency of expert editor workflows. This will include dashboards for
tracking progress on specific classes of moderation, more discrete editor level permissions to allow editorial
sub-tasks to be delegated, new tools for automating variant coordinate curation based on curated allele
registry identifiers, and others. We will develop sophisticated new natural language processing (NLP) tools to
automatically “fact-check” key components of new submissions to the database, automatically reject
problematic or unsalvageable submissions, automatically annotate key supporting statements from source
publications, and score submitted evidence for estimated accuracy to prioritize moderation efforts. Finally, we
will engage in significant outreach, education and collaborative activities to support editor recruiting, training
and incentivization. This will include hackathons, workshops, and new online educational materials developed
in collaboration with the ITCR training network.
Publications
Evaluating Language Models for Biomedical Fact-Checking: A Benchmark Dataset for Cancer Variant Interpretation Verification.
Authors: Reisle C.
, Grisdale C.J.
, Krysiak K.
, Danos A.M.
, Khanfar M.
, Pleasance E.
, Saliba J.
, Hanos M.
, Patel N.V.
, Jain A.
, et al.
.
Source: Biorxiv : The Preprint Server For Biology, 2025-09-15 00:00:00.0; , .
EPub date: 2025-09-15 00:00:00.0.
PMID: 41000838
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