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Record W4296630673 · doi:10.1038/s41431-022-01193-9

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

2022· article· en· W4296630673 on OpenAlexafffund
Kaveh Rayani, Brianna Davies, Matthew Cheung, Drake Comber, Jason D. Roberts, Rafik Tadros, Martin S. Green, Jeff S. Healey, Christopher S. Simpson, Shubhayan Sanatani, Christian Steinberg, Ciorsti MacIntyre, Paul Angaran, Henry J. Duff, Robert M. Hamilton, Laura Arbour, Richard Leather, Colette Seifer, Anne Fournier, Joseph Atallah, Shane Kimber, Bhavanesh Makanjee, Wael Alqarawi, Julia Cadrin‐Tourigny, Jacqueline Joza, Martin J. Gardner, Mario Talajic, Richard D. Bagnall, Andrew D. Krahn, Zachary Laksman

Bibliographic record

VenueEuropean Journal of Human Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA Research and Splicing
Canadian institutionsMcGill University Health CentreThe Scarborough HospitalStollery Children's HospitalUniversity of AlbertaCentre Hospitalier Universitaire Sainte-JustineSickKids FoundationLibin Cardiovascular Institute of AlbertaRoyal Jubilee HospitalUniversity of CalgarySt. Michael's HospitalMontreal Heart InstituteUniversity of ManitobaInstitut universitaire de cardiologie et de pneumologie de QuébecUniversité LavalBC Children's HospitalQueen's UniversityQueen Elizabeth II Health Sciences CentreWestern UniversityPopulation Health Research InstituteUniversité de MontréalUniversity of OttawaUniversity of British ColumbiaIsland HealthUniversity of Toronto
FundersCanadian Institutes of Health ResearchMichael Smith Health Research BC
KeywordsIn silicoGeneticsProbandMedical geneticsspliceBiologyGenetic testingComputational biologyExomeBioinformaticsGeneExome sequencingPhenotypeMutation

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)0.001
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.893
Threshold uncertainty score0.335

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
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 integrity0.0000.000
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 head0.014
GPT teacher head0.257
Teacher spread0.243 · 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

Citations7
Published2022
Admission routes2
Has abstractno

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