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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 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)0.000
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: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.912
Threshold uncertainty score0.241

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.022
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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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

Citations15
Published2022
Admission routes2
Has abstractyes

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