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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 OpenAlexafffund
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

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.

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)0.008
metaresearch head score (Gemma)0.027
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.008
Threshold uncertainty score0.043

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0080.027
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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

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 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

Citations27
Published2020
Admission routes2
Has abstractno

Explore more

Same venueGenetics in MedicineSame topicHereditary Neurological DisordersFrench-language works237,207