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Record W4393317597 · doi:10.1038/s41588-024-01686-x

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

2024· article· en· W4393317597 on OpenAlexafffund
Darcy Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Edward J. Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S. Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sérgio L. Pereira, Jill de Rijke, Wilson W. L. Sung, Alireza Mowjoodi, Jennifer Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X. Bautista, Kara Han, Christian R. Marshall, Ryan K. C. Yuen, Padmaja Subbarao, Meghan B. Azad, Stuart E. Turvey, Piush J. Mandhane, Theo J. Moraes, Elinor Simons, G. Larry Maxwell, Michael Shevell, Gregory Costain, Jacques L. Michaud, Fadi F. Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J. Stavropoulos, Richard F. Wintle, Maryam Oskoui, Stephen W. Scherer

Bibliographic record

VenueNature Genetics · 2024
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineChildren's Hospital Research Institute of ManitobaUniversity of AlbertaUniversity of British ColumbiaUniversity of ManitobaMcMaster UniversityOntario GenomicsQueen's UniversityTed Rogers Centre for Heart ResearchThames Valley Children's CentreUniversity of CalgaryChildren's Hospital of Eastern OntarioMcGill UniversityUniversity of OttawaMcGill University Health CentreUniversité de MontréalHospital for Sick ChildrenUniversity of TorontoSickKids FoundationBC Children's HospitalHolland Bloorview Kids Rehabilitation Hospital
FundersHospital for Sick ChildrenAzrieli FoundationWomen and Children's Health Research InstituteCanadian Institutes of Health ResearchAllerGenGovernment of CanadaFondation Brain CanadaOntario Brain Institute
KeywordsIndelBiologyGeneticsCopy-number variationGeneGenomeWhole genome sequencingGenetic architectureMutationSingle-nucleotide polymorphismPhenotypeGenotype

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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.918
Threshold uncertainty score0.556

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.038
GPT teacher head0.352
Teacher spread0.314 · 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

Citations40
Published2024
Admission routes2
Has abstractno

Explore more

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