MétaCan
Menu
Back to cohort
Record W2514286461 · doi:10.1038/ng.3661

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

2016· article· en· W2514286461 on OpenAlexaff
Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow

Bibliographic record

VenueNature Genetics · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA modifications and cancer
Canadian institutionsAlberta Children's HospitalBC Cancer Agency
FundersNational Heart, Lung, and Blood InstituteCollege of Pharmacy, University of MichiganNational Institute of Neurological Disorders and StrokeCentre National de la Recherche ScientifiqueUniversity of MichiganAgence Nationale de la RechercheBiotechnology and Biological Sciences Research CouncilGreat Ormond Street Hospital CharityNewlife the Charity for Disabled ChildrenWellcome Trust
KeywordsBiologySmall nucleolar RNALeukoencephalopathyRibosome biogenesisPhenotypeGeneticsMutationTranscriptomeRibosomal proteinRibosomeGeneGene expressionPathologyDiseaseNon-coding RNARNA

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 score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.007
GPT teacher head0.249
Teacher spread0.242 · 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

Citations147
Published2016
Admission routes1
Has abstractno

Explore more

Same venueNature GeneticsSame topicRNA modifications and cancerFrench-language works237,207