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Record W2980128108 · doi:10.1038/s41586-019-1650-0

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

2019· article· en· W2980128108 on OpenAlexaff
Hiromichi Suzuki, Sachin Kumar, Shimin Shuai, Ander Díaz‐Navarro, Ana Gutiérrez‐Fernández, Pasqualino De Antonellis, Florence M.G. Cavalli, Kyle Juraschka, Hamza Farooq, Ichiyo Shibahara, Maria Vladoiu, Jiao Zhang, Namal Abeysundara, David Przelicki, Patryk Skowron, Nicole Gauer, Betty Luu, Craig Daniels, Xiaochong Wu, Antoine Forget, Ali Momin, Jun Wang, Weifan Dong, Seung‐Ki Kim, Wiesława Grajkowska, Anne Jouvet, Michelle Fèvre‐Montange, Maria Luisa Garrè, Amulya A. Nageswara Rao, Caterina Giannini, Johan M. Kros, Pim J. French, Nada Jabado, Ho‐Keung Ng, Wai Sang Poon, Charles G. Eberhart, Ian F. Pollack, James M. Olson, William A. Weiss, Toshihiro Kumabe, Enrique López‐Aguilar, Bolesław Lach, Maura Massimino, Erwin G. Van Meir, Joshua B. Rubin, Rajeev Vibhakar, Lola B. Chambless, Noriyuki Kijima, Álmos Klekner, László Bognár, Jennifer A. Chan, Cláudia C. Faria, Jiannis Ragoussis, Stefan M. Pfister, Anna Goldenberg, Robert J. Wechsler‐Reya, Swneke D. Bailey, Livia Garzia, A. Sorana Morrissy, Marco A. Marra, Xi Huang, David Malkin, Olivier Ayrault, Vijay Ramaswamy, Xosé S. Puente, John A. Calarco, Lincoln Stein, Michael D. Taylor

Bibliographic record

VenueNature · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Chromatin Dynamics
Canadian institutionsCanada's Michael Smith Genome Sciences CentreUniversity of British ColumbiaSickKids FoundationBC Cancer AgencyMcGill UniversityMcGill University Health CentreMcGill University and Génome Québec Innovation CentreMcMaster UniversityUniversity of CalgaryHamilton General HospitalOntario Institute for Cancer ResearchUniversity of TorontoHospital for Sick Children
FundersNational Institute of Neurological Disorders and StrokeNational Cancer Institute
KeywordsSmall nuclear RNARNA splicingBiologysnRNPSonic hedgehogMedulloblastomaPrp24GeneticsGLI2Cancer researchGeneRNANon-coding RNA

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.564
Threshold uncertainty score0.493

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 integrity0.0010.001
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 head0.003
GPT teacher head0.235
Teacher spread0.232 · 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 designBench or experimental
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

Citations173
Published2019
Admission routes1
Has abstractno

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