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Record W2038812644 · doi:10.1002/ajmg.a.36249

Elements of morphology: General terms for congenital anomalies

2013· article· en· W2038812644 on OpenAlexaff
Raoul C. M. Hennekam, Leslie G. Biesecker, Judith Allanson, Judith G. Hall, John M. Opitz, I. Karen Temple, John C. Carey

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2013
Typearticle
Languageen
FieldMedicine
TopicCongenital Ear and Nasal Anomalies
Canadian institutionsBC Children's HospitalUniversity of British ColumbiaChildren's Hospital of Eastern Ontario
FundersNational Institutes of Health
KeywordsStandardizationMorphology (biology)PhenotypeProcess (computing)Field (mathematics)Evolutionary biologyBiologyComputational biologyGeneticsComputer scienceGeneMathematics

Abstract

fetched live from OpenAlex

An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human morphology. The goals are to standardize these terms and develop consensus regarding their definitions. This project will increase the usefulness and precision of descriptions of the human phenotype and facilitate reliable comparisons of phenotypic findings among clinicians and researchers in medicine, developmental biology, and genetics. Here we define and illustrate the general terms that describe congenital anomalies as related to human conditions.

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 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)0.002
metaresearch head score (Gemma)0.007
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: Empirical · Consensus signal: none
Teacher disagreement score0.014
Threshold uncertainty score0.045

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.007
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0090.009
Science and technology studies0.0020.006
Scholarly communication0.0040.007
Open science0.0030.003
Research integrity0.0020.005
Insufficient payload (model declined to judge)0.0140.012

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 head0.300
Teacher spread0.284 · 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
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

Citations150
Published2013
Admission routes1
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicCongenital Ear and Nasal AnomaliesFrench-language works237,207