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Record W3046354882 · doi:10.1038/s41436-020-0924-0

Assessing non-Mendelian inheritance in inherited axonopathies

2020· article· en· W3046354882 on OpenAlex
Dana M. Bis‐Brewer, Ziv Gan‐Or, Patrick Sleiman, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Laura Pérez, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Tiffany Grider, Tim Estilow, Vera Fridman, Mary M. Reilly, Michael E. Shy, Chelsea J. Bacon, Shawna Feely, Alexander M. Rossor, David N. Herrmann, Håkon Håkonarson, Sarah Fazal, Steve Courel, Vívian Pedigone Cintra, Feifei Tao, Mehrdad A. Estiar, Mark A. Tarnopolsky, Kym M. Boycott, Grace Yoon, Oksana Suchowersky, Nicolas Dupré, Andrew Cheng, Thomas E. Lloyd, Guy A. Rouleau, Rebecca Schüle, Stephan Züchner

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueGenetics in Medicine · 2020
Typearticle
Languageen
FieldNeuroscience
TopicHereditary Neurological Disorders
Canadian institutionsUniversité LavalUniversity of AlbertaHospital for Sick ChildrenMcMaster UniversityChildren's Hospital of Eastern OntarioMcGill UniversityUniversity of OttawaSickKids FoundationUniversity of TorontoMontreal Neurological Institute and Hospital
FundersNational Institute of Neurological Disorders and StrokeMuscular Dystrophy AssociationCanadian Institutes of Health ResearchCharcot-Marie-Tooth Association
KeywordsMendelian inheritanceGeneticsAlleleExome sequencingPenetranceExomeBiologyOdds ratioMedicineDiseaseGenetic heterogeneityGeneBioinformaticsMutationPhenotypeInternal 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.

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)0.003
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 score0.817
Threshold uncertainty score0.684

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.141
GPT teacher head0.342
Teacher spread0.201 · 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