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Record W4308957884 · doi:10.1093/nar/gkac979

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

2022· article· en· W4308957884 on OpenAlexaff
Kilannin Krysiak, Arpad Danos, Jason Saliba, Joshua F. McMichael, Adam Coffman, Susanna Kiwala, Erica K. Barnell, Lana Sheta, Cameron J. Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Sarah Ridd, Nicholas C. Spies, Veronica Andric, Andreea Chiorean, Damian Rieke, Kaitlin A. Clark, Caralyn Reisle, Ajay C Venigalla, Mark G. Evans, Payal Jani, Hideaki Takahashi, Avila Suda, Peter Horak, Deborah Ritter, Xin Zhou, Benjamin J. Ainscough, Sean DeLong, Chimene Kesserwan, Mario Lamping, Haolin Shen, Alexander Marr, My Hoang, Kartik Singhal, Mariam Khanfar, Brian V Li, Wan‐Hsin Lin, Panieh Terraf, Laura Corson, Yasser Salama, Katie M. Campbell, Kirsten M. Farncombe, Jianling Ji, Xinjie Xu, Rashmi Kanagal‐Shamanna, Ian King, Kelsy C. Cotto, Zachary L. Skidmore, Jason Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y. Patel, Rachel H. Giles, Raymond H. Kim, Lynn M. Schriml, Elaine R. Mardis, Steven J.M. Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H. Wagner, Malachi Griffith, Obi L. Griffith

Bibliographic record

VenueNucleic Acids Research · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsPrincess Margaret Cancer CentreOntario Institute for Cancer ResearchUniversity of TorontoUniversity Health NetworkToronto General HospitalHospital for Sick ChildrenYork UniversityUniversity of British ColumbiaSinai Health SystemCanada's Michael Smith Genome Sciences Centre
FundersCancer MoonshotNational Center for Advancing Translational SciencesNational Human Genome Research InstituteBerlin Institute of HealthInstitute of Clinical and Translational SciencesEli Lilly and CompanyBristol-Myers SquibbMoonshot Research and Development ProgramCharité – Universitätsmedizin BerlinNational Cancer InstituteNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsBiologyInterpretation (philosophy)InteroperabilityInferenceData curationComputational biologyGermlineCancerGeneticsData scienceGeneComputer scienceWorld Wide WebArtificial intelligence

Abstract

fetched live from OpenAlex

CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more prevalent in cancer management, the need for cancer variant interpretation has grown beyond the capability of any single institution. CIViC contains peer-reviewed, published literature curated and expertly-moderated into structured data units (Evidence Items) that can be accessed globally and in real time, reducing barriers to clinical variant knowledge sharing. We have extended CIViC's functionality to support emergent variant interpretation guidelines, increase interoperability with other variant resources, and promote widespread dissemination of structured curated data. To support the full breadth of variant interpretation from basic to translational, including integration of somatic and germline variant knowledge and inference of drug response, we have enabled curation of three new Evidence Types (Predisposing, Oncogenic and Functional). The growing CIViC knowledgebase has over 300 contributors and distributes clinically-relevant cancer variant data currently representing >3200 variants in >470 genes from >3100 publications.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.628
Threshold uncertainty score0.923

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.003
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.043
GPT teacher head0.405
Teacher spread0.362 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations46
Published2022
Admission routes1
Has abstractyes

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