MétaCan
Menu
Back to cohort
Record W4210877226 · doi:10.1038/s41467-022-28348-y

A platform for oncogenomic reporting and interpretation

2022· article· en· W4210877226 on OpenAlexafffund
Caralyn Reisle, Laura M. Williamson, Erin Pleasance, Anna Davies, Brayden Pellegrini, Dustin W. Bleile, Karen Mungall, Eric Chuah, Martin Jones, Yussanne Ma, Eleanor Lewis, Isaac Beckie, David Pham, Raphael Matiello Pletz, Amir Muhammadzadeh, Brandon M. Pierce, Jacky Li, Ross Stevenson, Hansen Wong, Lance R. Bailey, Abbey Reisle, Matthew Douglas, Melika Bonakdar, Jessica Nelson, Cameron J. Grisdale, Martin Krzywinski, Ana Fisic, Teresa Mitchell, Daniel J. Renouf, Stephen Yip, Janessa Laskin, Marco A. Marra, Steven J.M. Jones

Bibliographic record

VenueNature Communications · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsSimon Fraser UniversityCanada's Michael Smith Genome Sciences CentrePancreas Centre (Canada)University of British Columbia
FundersCommon FundMinistry of Technology, Innovation and Citizens' ServicesNIH Office of the DirectorBC Cancer FoundationNational Human Genome Research InstituteBritish Columbia Knowledge Development FundNational Cancer InstituteNational Institutes of HealthCanada Research ChairsGenome British ColumbiaCanada Foundation for InnovationGenome Canada
KeywordsComputer scienceData scienceInterpretation (philosophy)LimitingGraphMatching (statistics)Computational biologyMedicineBiologyEngineeringPathologyTheoretical computer scienceProgramming language

Abstract

fetched live from OpenAlex

Manual interpretation of variants remains rate limiting in precision oncology. The increasing scale and complexity of molecular data generated from comprehensive sequencing of cancer samples requires advanced interpretative platforms as precision oncology expands beyond individual patients to entire populations. To address this unmet need, we introduce a Platform for Oncogenomic Reporting and Interpretation (PORI), comprising an analytic framework that facilitates the interpretation and reporting of somatic variants in cancer. PORI integrates reporting and graph knowledge base tools combined with support for manual curation at the reporting stage. PORI represents an open-source platform alternative to commercial reporting solutions suitable for comprehensive genomic data sets in precision oncology. We demonstrate the utility of PORI by matching 9,961 pan-cancer genome atlas tumours to the graph knowledge base, calculating therapeutically informative alterations, and making available reports describing select individual samples.

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)0.024
metaresearch head score (Gemma)0.061
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.024
Threshold uncertainty score0.125

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0240.061
Meta-epidemiology (narrow)0.0020.002
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0110.008
Science and technology studies0.0020.002
Scholarly communication0.0100.008
Open science0.0050.010
Research integrity0.0020.004
Insufficient payload (model declined to judge)0.0190.015

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 head0.022
GPT teacher head0.319
Teacher spread0.298 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
Domainnot available
GenreMethods

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

Citations15
Published2022
Admission routes2
Has abstractyes

Explore more

Same venueNature CommunicationsSame topicCancer Genomics and DiagnosticsFrench-language works237,207