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Record W4297891281 · doi:10.1016/j.ajhg.2022.08.014

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

2022· article· en· W4297891281 on OpenAlexafffund
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koenraad Devriendt, Helen Stewart, Benito Baños-Piñero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel Van Maldergem, Juliette Piard, Elise Brischoux‐Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández‐Jaén, Sara Álvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El‐Akouri, Mariam Al‐Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez‐Lara, John M. Graham, Amy E. Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari‐Tiri, Tracy Dudding‐Byth, Anamaria Richardson, David Hunt, Laura S. Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez‐Martínez, Jair Tenorio, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, Ping Yee Billie Au, Rosanna Weksberg

Bibliographic record

VenueThe American Journal of Human Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsAlberta Children's HospitalDalhousie UniversityNorth York General HospitalChildren's Hospital of Eastern OntarioYork Central HospitalUniversity of OttawaBC Children's HospitalUniversity of TorontoUniversity Health NetworkSickKids FoundationUniversity of CalgaryMount Sinai HospitalUniversity of British ColumbiaHospital for Sick Children
FundersRTW Charitable FoundationCommon FundCanadian Institutes of Health ResearchNational Institutes of HealthSimons Foundation Autism Research InitiativeKing Salman Center for Disability ResearchEuropean Regional Development FundRare Disease FoundationOntario Brain Institute
KeywordsMissense mutationBiologydNaMPhenotypeGeneticsEpigeneticsLoss functionDNA methylationGene

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 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)0.000
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: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.549
Threshold uncertainty score0.329

Codex and Gemma teacher scores by category

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

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 head0.008
GPT teacher head0.244
Teacher spread0.236 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations36
Published2022
Admission routes2
Has abstractno

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