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Record W4400091307 · doi:10.1038/s41588-024-01808-5

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

2024· article· en· W4400091307 on OpenAlexafffund
David Pellerin, Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos‐Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, André Nussenzweig, Марек Напиерала, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Emily Bateman, Chelsea Berngruber, Fabio Cunial, Colleen Davis, Huyen Dinh, HarshaVardhan Doddapaneni, Kim K. Doheny, Shannon Dugan‐Perez, Tara Dutka, Evan E. Eichler, Philip E. Empey, Sarah Fazal, Chris Frazar, Kiran Garimella, Jessica Gearhart, Richard C. Gibbs, Jane Grimwood, Namrata Gupta, Salina K. Hall, Yi Han, William T. Harvey, Jess Hosea, PingHsun Hsieh, Jianhong Hu, Yongqing Huang, James C. M. Hwang, Michal Izydorczyk, Hyeonsoo Jeong, Ziad Khan, Sarah Kirkpatrick, Michelle Kokosinski, Sam Kovaka, Rebecca Lakatos, Emily L. LaPlante, Samuel K. Lee, Niall J. Lennon, Shawn Levy, Qiuhui Li, Lee Lichtenstein, Glennis A. Logsdon, Chris Lord, Ryan Lorig-Roach, Medhat Madmoud, Anant Maheshwari, Beth Marosy, Heer H. Mehta, Ginger Metcalf, David W. Mohr, Carolina Montaño, Luke B Morina, Yulia Mostovoy, Anjene Musick, Donna M. Muzny, Shane Neph, Justin Paschall, Karynne Patterson, A. Pionzio, David Porubskỳ, Nripesh Prasad, Allison N. Rozanski, Alba Sanchis-Juan, Michael C. Schatz, Sophie Schwartz, Alan F. Scott, Adriana E. Sedeño-Cortés, Fritz J. Sedlazeck, Tristan Shaffer, Hua Shen, Beri Shifaw, Joshua D. Smith, Natthapon Soisangwan, Andrew B. Stergachis, Hang Su, Michael E. Talkowski, Winston Timp, Vanesa Vee, Evie Wan, Yuanyuan Wang, George Weissenberger, Julie Wertz, Marsha M. Wheeler, Christopher W. Whelan, DongAhn Yoo, Shadi Zaheri, Xinchang Zheng, Yiming Zhu, Michelle Zilka, Bernard Brais, Stephan Züchner, Matt C. Danzi

Bibliographic record

VenueNature Genetics · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicFibroblast Growth Factor Research
Canadian institutionsHospital for Sick ChildrenSickKids FoundationMontreal Neurological Institute and HospitalUniversity of TorontoChildren's Hospital of Eastern OntarioMcGill UniversityUniversity of Ottawa
FundersNational Institute of Neurological Disorders and StrokeNational Cancer InstituteNational Institute on Drug AbuseUCLH Biomedical Research CentreNational Health and Medical Research CouncilMedical Research CouncilUniversity College London Hospitals NHS Foundation TrustGovernment of CanadaDeutsche ForschungsgemeinschaftGénome QuébecOntario Genomics InstituteCanadian Institutes of Health ResearchGenome CanadaU.S. Department of Health and Human ServicesNational Institutes of HealthOntario GenomicsNational Center for Advancing Translational SciencesNational Human Genome Research InstituteWellcome Trust
KeywordsBiologyLocus (genetics)GeneticsComputational biologyGene

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)0.000
metaresearch head score (Gemma)0.001
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.008
Threshold uncertainty score0.026

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0080.001

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 head0.266
Teacher spread0.258 · 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

Citations34
Published2024
Admission routes2
Has abstractno

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