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Record W3086044293 · doi:10.1016/s1474-4422(20)30273-8

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

2020· article· en· W3086044293 on OpenAlexafffund
Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen E. Speedy, Tracy Campbell, Penny J. Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline M. Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akın Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gábor G. Kovács, Michael D. Geschwind, Aili Golubjatnikov, Karl Frontzek, Herbert Budka, Adriano Aguzzi, Hata Karamujić‐Čomić, Sven J. van der Lee, Carla A. Ibrahim‐Verbaas, Cornelia M. van Duijn, Beata Sikorska, Ewa Golańska, Paweł P. Liberski, Miguel Calero, Olga Calero, Pascual Sánchez‐Juan, Antonio Salas, Federico Martinón‐Torres, Élodie Bouaziz-Amar, Stéphane Haı̈k, Jean Laplanche, Jean-Phillipe Brandel, Jean‐Charles Lambert, Piero Parchi, Anna Bartoletti‐Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie A. Booth, Michael B. Coulthart, Gerard H. Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian S. Appleby, John Collinge, Simon Mead

Bibliographic record

VenueThe Lancet Neurology · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicPrion Diseases and Protein Misfolding
Canadian institutionsUniversity of OttawaPublic Health Agency of CanadaOntario Brain InstituteUniversity of TorontoUniversity Health Network
FundersNational Institute of Neurological Disorders and StrokeEuropean Regional Development FundInstituto de Salud Carlos IIINational Health and Medical Research CouncilDepartment of Health and Social CarePolska Akademia NaukMedical Research CouncilNational Institutes of HealthRobert Koch InstitutEuropean CommissionInstitute Pasteur De LilleFondation pour la recherche juridiqueAssociazione Italiana per la Ricerca sul CancroEisaiWellcome TrustAlzheimer's SocietyAgence Nationale de la RechercheAgence Française de Sécurité Sanitaire des Produits de SantéMinistero dell’Istruzione, dell’Università e della RicercaMinistry of Health, Labour and WelfareEU Joint Programme – Neurodegenerative Disease ResearchInstitut National de la Santé et de la Recherche MédicaleNational Institute on AgingNational Institute for Health and Care ResearchDepartment of Health and Aged Care, Australian GovernmentQuest DiagnosticsTau ConsortiumFondation de France
KeywordsGenome-wide association studySingle-nucleotide polymorphismPRNPBiologyOdds ratioGeneticsGenetic associationDiseaseHeritabilityGenotypingExome sequencingSNPGeneGenotypeMedicinePhenotypeInternal medicine

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)0.001
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 score0.346
Threshold uncertainty score0.296

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
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 head0.022
GPT teacher head0.263
Teacher spread0.241 · 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

Citations77
Published2020
Admission routes2
Has abstractno

Explore more

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