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Record W3111381539 · doi:10.1038/s41436-020-01020-w

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

2020· article· en· W3111381539 on OpenAlexafffund
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer

Bibliographic record

VenueGenetics in Medicine · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsUniversity of British Columbia
FundersNIHR Great Ormond Street Hospital Biomedical Research CentreMedical Research CouncilCanadian Institutes of Health ResearchNIHR BioResourceLundbeckfondenH. Lundbeck A/SProvincial Health Services AuthorityNIHR Cambridge Biomedical Research CentreRosetrees TrustOntario Genomics InstituteGenome British ColumbiaGenome AlbertaSimons Foundation Autism Research InitiativeNational Institute for Health and Care ResearchGenome CanadaNational Institutes of HealthOntario GenomicsNational Human Genome Research InstituteWellcome Trust
KeywordsEpilepsyMedicineEncephalopathyPediatricsGeneticsBiologyPsychiatry

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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.139
Threshold uncertainty score0.513

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 head0.021
GPT teacher head0.269
Teacher spread0.248 · 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 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

Citations47
Published2020
Admission routes2
Has abstractno

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