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Record W4399509388 · doi:10.21203/rs.3.rs-4438861/v1

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

2024· preprint· en· W4399509388 on OpenAlexaff
Tzung‐Chien Hsieh, Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Elaine Marchi, Ibrahim M. Abdelrazek, Jean Tori Pantel, Hannah Klinkhammer, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik‐Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode‐Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A. Zárate, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Aimé Lumaka, Marwan Shinawi, Patrick R. Blackburn, Tianyun Wang, Tim Niehues, Ping Hu, Rebekah L. Waikel, Suzanna E. Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bezieau, Annabelle Arlt, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza‐Londono, Sofia Douzgou, Denisa Weis, Brian Hon‐Yin Chung, Christopher Chun Yu Mak, Nursel Elçioğlu, Ayça Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela‐Stanek, Koen Devriendt, Karen W. Gripp, Martin Mücke, Alain Verloès, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M. Nöthen, Ebtesam Abdalla, Gholson J. Lyon, Peter Krawitz, Hülya Kayserili, Louiza Toutouna, Axel Schmidt, Regina Roth, Dagmar Wieczorek, Eric Olinger

Bibliographic record

VenueResearch Square · 2024
Typepreprint
Languageen
FieldComputer Science
TopicAI in cancer detection
Canadian institutionsSickKids FoundationHospital for Sick ChildrenHealth Research Foundation
FundersNational Institutes of HealthZonMwWellcome Trust
KeywordsBenchmarkingMedicineComputer scienceDatabase

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)0.001
metaresearch head score (Gemma)0.006
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: Dataset · Consensus signal: Dataset
Teacher disagreement score0.025
Threshold uncertainty score0.083

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.006
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0050.003
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0020.003
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0250.018

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 head0.115
GPT teacher head0.441
Teacher spread0.326 · 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
GenreDataset

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

Citations4
Published2024
Admission routes1
Has abstractno

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