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Record W3171677180 · doi:10.1101/2021.06.13.448171

Evolution of the open-access CIViC knowledgebase is driven by the needs of the cancer variant interpretation community

2021· preprint· en· W3171677180 on OpenAlexaff
Kilannin Krysiak, Arpad Danos, Susanna Kiwala, Joshua F. McMichael, Adam Coffman, Erica K. Barnell, Lana Sheta, Jason Saliba, Cameron J. Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Nicholas C. Spies, Andreea Chiorean, Damian Rieke, Kaitlin A. Clark, Payal Jani, Hideaki Takahashi, Peter Horak, Deborah Ritter, Xin Zhou, Benjamin J. Ainscough, Sean DeLong, Mario Lamping, Alexander Marr, Brian V Li, Wan‐Hsin Lin, Panieh Terraf, Yasser Salama, Katie M. Campbell, Kirsten M. Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal‐Shamanna, Kelsy C. Cotto, Zachary L. Skidmore, Jason Walker, Jinghui Zhang, Aleksandar Milosavljević, 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, Obi L. Griffith, Malachi Griffith

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2021
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsToronto General HospitalYork UniversityUniversity Health NetworkPrincess Margaret Cancer CentreCanada's Michael Smith Genome Sciences Centre
FundersCancer MoonshotMoonshot Research and Development ProgramNational Center for Advancing Translational SciencesNational Cancer InstituteAmazon Web ServicesNational Institutes of HealthNational Human Genome Research InstituteBerlin Institute of HealthChildren's Discovery InstituteInstitute of Clinical and Translational Sciences
KeywordsInterpretation (philosophy)InteroperabilityInferenceData curationData scienceCancerKnowledge managementComputational biologyComputer scienceBiologyWorld Wide WebGeneticsArtificial intelligence

Abstract

fetched live from OpenAlex

Abstract 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. With nearly 300 contributors, CIViC contains peer-reviewed, published literature curated and expert-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 distributes clinically-relevant cancer variant data currently representing >2500 variants in >400 genes from >2800 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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.060
metaresearch head score (Gemma)0.124
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesScholarly communication, Open science
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.992
Threshold uncertainty score0.315

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0600.124
Meta-epidemiology (narrow)0.0010.002
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0090.009
Science and technology studies0.0030.003
Scholarly communication0.0170.012
Open science0.0080.015
Research integrity0.0040.010
Insufficient payload (model declined to judge)0.0140.013

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 head0.015
GPT teacher head0.265
Teacher spread0.250 · 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 source (direct Gemma or distilled Codex), not a consensus.

Study designObservational
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

Citations0
Published2021
Admission routes1
Has abstractyes

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