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Record W4411505792 · doi:10.1038/s41591-025-03754-z

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2025· erratum· en· W4411505792 on OpenAlexaff
Steven Laurie, Kiran Polavarapu, Anna Sommer, German Demidov, Kornelia Ellwanger, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Holger Hengel, Rita Horváth, Adam Jackson, Lennart Johansson, Erik-Jan Kamsteeg, Hanns Lochmüller, Alfons Macaya, Anna Marcé‐Grau, Francesco Muntoni, Francesco Musacchia, Vincenzo Nigro, Catarina Olimpio, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Davide Piscia, Manuel Posada, Selina Reich, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Carla Oliveíra, Didier Lacombe, Estrella López‐Martín, Olaf Rieß, Alain Verloès, Lisenka E.L.M. Vissers, Patrick F. Chinnery, Teresinha Evangelista, Henry Houlden, Stéphanie Efthymiou, Holm Graessner, Melanie Kellner, Katja Lohmann, Aleš Maver, Rebecca Schüle, Nika Schuermans, Jana Vandrovcová, Sergi Beltrán, Anthony J. Brookes, Han G. Brunner, Alexander Hoischen, Leslie Matalonga, Giulio Piluso, Alessandra Renieri, Verena Steinke‐Lange, Ana Töpf, Jishu Xu, Stephan Ossowski, Matthis Synofzik

Bibliographic record

VenueNature Medicine · 2025
Typeerratum
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsOttawa HospitalChildren's Hospital of Eastern OntarioUniversity of Ottawa
Fundersnot available
KeywordsMedical diagnosisResource (disambiguation)DiseaseComputational biologyRare diseaseMedicineGeneticsBiologyComputer scienceInternal medicinePathology

Abstract

fetched live from OpenAlex

OpenAlex records an abstract for this work, but it could not be fetched just now.

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)0.102
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.093
Threshold uncertainty score0.311

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.102
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.004
Science and technology studies0.0030.002
Scholarly communication0.0050.003
Open science0.0030.002
Research integrity0.0040.010
Insufficient payload (model declined to judge)0.0930.050

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 head0.005
GPT teacher head0.239
Teacher spread0.234 · 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 designBench or experimental
Domainnot available
GenreOther

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
Published2025
Admission routes1
Has abstractyes

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