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Record W2961502106 · doi:10.1002/ajmg.c.31721

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

2019· article· en· W2961502106 on OpenAlexafffund
Noémi Dahan‐Oliel, Sarah Cachecho, Douglas Barnes, Tanya Bedard, Ann M. Davison, Klaus Dieterich, Maureen Donohoe, Alicja Fąfara, Reggie C. Hamdy, Helgi Thor Hjartarson, Naimisha S. Hoffman, Eva Kimber, И. А. Комолкин, Ruth Lester, Eva Pontén, Harold J. P. van Bosse, Judith G. Hall

Bibliographic record

VenueAmerican Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsUniversity of British ColumbiaAlberta Health ServicesMcGill UniversityKwantlen Polytechnic UniversityShriners Hospitals for Children - Canada
FundersShriners Hospitals for ChildrenMcMaster University
KeywordsArthrogryposis multiplex congenitaTerminologyAnnotationMultidisciplinary approachProcess (computing)Delphi methodComputer scienceParagraphPsychologyArthrogryposisMedical educationMedicineData sciencePolitical scienceWorld Wide WebArtificial intelligenceLinguistics

Abstract

fetched live from OpenAlex

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.

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 distilled prediction

Teacher imitation

Not 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)0.002
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.611
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.028
GPT teacher head0.361
Teacher spread0.333 · 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 teacher head, not a consensus.

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

Citations91
Published2019
Admission routes2
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part C Seminars in Medical GeneticsSame topicNeurogenetic and Muscular Disorders ResearchFrench-language works237,207