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Record W4412224336

Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

2024· article· en· W4412224336 on OpenAlexfundno aff
Inger Norlyk Sheyanth, Mette Sommerlund, Hanne Vinter, Jannie Assenholt, Hans Gjørup, Lone Sunde, Malene Lundsgaard

Bibliographic record

VenueVBN Forskningsportal (Aalborg Universitet) · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsnot available
FundersInstitute of Infection and ImmunityGenome Institute of SingaporeCentre National de la Recherche ScientifiqueDuke-NUS Medical SchoolLietuvos Mokslo TarybaVetenskapsrådetUniversity of PittsburghUniversity of Hong KongFondazione Bruno KesslerEuskal Herriko UnibertsitateaUniversidad de GranadaZonMwUniversity of MelbourneHelsingin YliopistoUniversity of California, Los AngelesCentro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación OncológicVanda PharmaceuticalsSchool of Public Health, University of MichiganSingapore Eye Research InstituteAlbert-Ludwigs-Universität FreiburgEmory UniversityNational University of SingaporeMinistrstvo za Izobraževanje, Znanost in ŠportNarodowym Centrum NaukiEuropean Regional Development FundBundesministerium für Bildung und ForschungUniversitat Pompeu FabraInstitut National de la Santé et de la Recherche MédicaleNational University Health SystemIndian National Science AcademyAgency for Science, Technology and Research
KeywordsNevoid basal-cell carcinoma syndromePTCH1Basal Cell Nevus SyndromeBiologyMedicinePathologyBasal cell carcinomaGeneticsBasal cellGene
DOInot available

Abstract

fetched live from OpenAlex

Contributions of up to EUR 10 000.-(Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest".

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.001

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 head0.009
GPT teacher head0.216
Teacher spread0.207 · 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 designCase report
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

Citations0
Published2024
Admission routes1
Has abstractno

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