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Record W3044594590 · doi:10.1038/s41586-020-2579-z

Genome-wide detection of tandem DNA repeats that are expanded in autism

2020· article· en· W3044594590 on OpenAlexaff
Brett Trost, Worrawat Engchuan, Charlotte Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A. Mojarad, Yue Yin, Alona Dov, Induja Chandrakumar, Tanya Prasolava, Natalie Shum, Omar Hamdan, Giovanna Pellecchia, Jennifer Howe, Joseph Whitney, Eric W. Klee, Saurabh Baheti, David G. Amaral, Evdokia Anagnostou, Mayada Elsabbagh, Bridget A. Fernandez, Ny Hoang, M. E. Suzanne Lewis, Xudong Liu, Calvin Sjaarda, Isabel M. Smith, Péter Szatmári, Lonnie Zwaigenbaum, David Glazer, Dean M. Hartley, A. Keith Stewart, Michael A. Eberle, Nozomu Sato, Christopher E. Pearson, Stephen W. Scherer, Ryan K. C. Yuen

Bibliographic record

VenueNature · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsUniversity of AlbertaCentre for Addiction and Mental HealthIzaak Walton Killam Health CentreQueen's UniversityMontreal Neurological Institute and HospitalMemorial University of NewfoundlandMcGill UniversityDalhousie UniversityHolland Bloorview Kids Rehabilitation HospitalBC Children's HospitalSickKids FoundationUniversity of TorontoUniversity of British ColumbiaHospital for Sick Children
FundersNational Institute of Mental Health
KeywordsTandem repeatGeneticsBiologyVariable number tandem repeatDirect repeatRepeated sequenceMicrosatelliteGenomeTrinucleotide repeat expansionPopulationGeneGenotypeMedicineAllele

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.009
GPT teacher head0.220
Teacher spread0.210 · 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 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

Citations260
Published2020
Admission routes1
Has abstractno

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