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Record W4224037213 · doi:10.1101/2022.04.13.22273750

Mondo: Unifying diseases for the world, by the world

2022· preprint· en· W4224037213 on OpenAlexaff
Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak Unni, Gioconda Alyea, Joanna Amberger, Lawrence Babb, James P. Balhoff, Taylor I. Bingaman, Gully Burns, Orion J. Buske, Tiffany J. Callahan, Leigh Carmody, Paula Carrio-Cordo, Lauren Chan, George S Chang, S. Christiaens, Michel Dumontier, Laura Failla, May J Flowers, H. Alpha Garrett, Jennifer Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L. Harris, Jason A. Hilton, Daniel Himmelstein, Charles Tapley Hoyt, Megan Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna Maglott, Adriana J Malheiro, Birgit Meldal, Mónica Muñoz-Torres, Tristan Nelson, F. W. Nicholas, David Ochoa, Daniel Olson, Tudor I. Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L. Rehm, Lyubov Remennik, Erin Rooney Riggs, Paola Roncaglia, Justyne Ross, Marion Shadbolt, Kent Shefchek, Morgan Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L. Storm, Doron Stupp, Gregory S. Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, D. K. C. Tay, Courtney Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H. Wagner, Danielle Welter, Patricia L. Whetzel, Lori Whiteman, Valerie Wood, Colleen Xu, Andreas Zankl, Xingmin Zhang, Christopher G. Chute, Peter N. Robinson, Chris Mungall, Ada Hamosh, Melissa Haendel

Bibliographic record

VenuemedRxiv · 2022
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBiomedical Text Mining and Ontologies
Canadian institutionsBioinformatics Solutions (Canada)Jewish General Hospital
FundersU.S. National Library of MedicineNIH Office of the DirectorNational Human Genome Research InstituteNational Institutes of Health
KeywordsOntologyDiseaseComputer scienceData scienceKey (lock)Data integrationMedicineData miningComputer security

Abstract

fetched live from OpenAlex

Abstract There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that need to harmonize information to better predict causes and treatments for disease. The Mondo Disease Ontology is an open, community-driven ontology that integrates key medical and biomedical terminologies, supporting disease data integration to improve diagnosis, treatment, and translational research. Mondo records the sources of all data and is continually updated, making it suitable for research and clinical applications that require up-to-date disease knowledge.

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)0.002
metaresearch head score (Gemma)0.008
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.012
Threshold uncertainty score0.040

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.008
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0050.004
Science and technology studies0.0010.001
Scholarly communication0.0040.005
Open science0.0010.006
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0120.004

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 head0.030
GPT teacher head0.312
Teacher spread0.283 · 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 designNot applicable
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

Citations102
Published2022
Admission routes1
Has abstractyes

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