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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Carles Hernandéz-Ferrer, Davide Piscia, Isabel Cuesta, Yannis Duffourd, Christian Gilissen, Shuang� Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Prasanth Sivakumar, Peter Robinson, Karolis Sablauskas, Marco Savarese, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda M. de Voer, Stefan Aretz, Gabriel Capellá, D. Gareth Evans, José Garcia‐Pelaez, Carla Oliveíra, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Kornelia Ellwanger, Laurence Faivre, Holm Graeßner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovicová, Alexander Hoischen, Anne Hugon, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada de la Paz, Francesca Clementina Radio, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Pavel Votýpka, Klea Vyshka, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Jarred Lau, Hanns Lochmüller, William L. Macken, Francesco Musacchia, A. Nascimento, Daniel Natera‐de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D. S. Pitceathly, Kiran Polavarapu, Anna Sárközy, Rachel Thompson, Bjarne Udd, Irina Zaharieva, Patrick F. Chinnery, Alexandra Dürr, Holger Hengel, Henry Houlden, Erik-Jan Kamsteeg, Christoph Kamsteeg, Katja Lohmann, Alfons Macaya, Aleš Maver, Judit Molnar, Alexander Münchau, Borut Peterlin, Olaf Rieß, Giovanni Stévanin, Vincent Timmerman, Nienke van Os, Melanie Wayand, Carlo Wilke, Raúl Tonda, Marcos Fernández-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Corvò, Ricky S. Joshi, Hector Diez, Marta Gut, Sergi Beltrán, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze‐Hentrich, Christoph Keßler, Peter Heutink, Han G. Brunner, Hans Scheffer, Peter A.C. ’t Hoen, Erik Janssen, Marloes Steehouwer, Burcu Yaldız, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, C. Marini Bettolo, Sabine Specht, Elizabeth Alexander, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Steven Laurie, Gemma Bullich, Carles García, Gulcin Gumus, Virginie Bros‐Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Claire-Sophie Davoine, Léna Guillot‐Noël, Anna Heinzmann, Giulia Coarelli, Valérie Allamand, Rabah Ben Yaou, Corinne Métay, B. Eymard, Enzo Cohen, António Atalaia, Tanya Stojkovic, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Věra Franková, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Glenn Robert, Alessia Costa, Christine Patch, Mary M. Reilly, Francesco Muntoni, Peter De Jonghe, Sandro Banfi, Rachele Rossi, Marcella Neri, Isabel Spier, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Raffaele Castello, Alessandra Varavallo, Eva Bermejo, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Mária Judit Molnár, Rebecca Herzog, Martje G. Pauly, Andres Nascimiento Osorio, David Beeson
Bibliographic record
VenueEuropean Journal of Human Genetics · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsChildren's Hospital of Eastern Ontario
FundersMedical Research Council
KeywordsPhenomeComputational biologyGenomeGeneticsBiologyMedicineData scienceBioinformaticsComputer scienceGene
Abstract
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 distilled prediction
Teacher imitationNot 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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.547
Threshold uncertainty score0.503
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 head0.016
GPT teacher head0.246
Teacher spread0.230 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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
Citations1
Published2021
Admission routes1
Has abstractno