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Record W4403609354 · doi:10.1038/s41588-024-01941-1

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

2024· article· en· W4403609354 on OpenAlexaff
A M Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Sæther, Ida Höijer, Özlem Akgün Doğan, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf A. Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Daniš, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga‐Jauregui, Giedré Grigelioniené, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Hammond, Özden Hatırnaz Ng, Sirisha Hesketh, D. Hettiarachchi, Maria Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt‐Robinson, Paul Lasko, Timo Lassmann, Lynette Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maīga, Carolina Maya‐González, M. Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Uğur Özbek, Özkan Özdemir, Clyde Partin, David A. Pearce, Raquel Peck, Annie Pedersén, Maria Pettersson, Monnat Pongpanich, Manuel Posada de la Paz, Arun Ramani, Vanessa Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva‐Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia‐Páez, Domenica Taruscio, Julie P. Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A.G. van Zelst–Stams, Alain Verloès, Emma Västerviga, Sailan Wang, Peirong Yang, Shinya Yamamoto, Vicente A. Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D. Botto, Salman Kirmani, Aimé Lumaka, Elizabeth E. Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J. Buske, Mikk Cederroth, Ann Nordgren

Bibliographic record

VenueNature Genetics · 2024
Typearticle
Languageen
FieldEngineering
TopicBiomedical and Engineering Education
Canadian institutionsMcGill UniversityHospital for Sick Children
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeUppsala Multidisciplinary Center for Advanced Computational ScienceScience for Life LaboratoryVetenskapsrådetNational Human Genome Research InstituteChan Zuckerberg InitiativeBertil Hållstens ForskningsstiftelseHjärnfondenKnut och Alice Wallenbergs StiftelseKarolinska InstitutetOxford Nanopore Technologies
KeywordsMedical diagnosisMultidisciplinary approachGeneral partnershipBiologyDiseasePrecision medicineGenomic medicineData scienceComputational biologyMedical physicsBioinformaticsGeneticsMedicineComputer sciencePathology

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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)0.006
metaresearch head score (Gemma)0.044
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.018
Threshold uncertainty score0.060

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.044
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.001
Science and technology studies0.0020.004
Scholarly communication0.0050.007
Open science0.0020.005
Research integrity0.0050.012
Insufficient payload (model declined to judge)0.0180.006

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 head0.003
GPT teacher head0.193
Teacher spread0.190 · 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 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

Citations7
Published2024
Admission routes1
Has abstractno

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