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Record W2591909999 · doi:10.1038/nn.4524

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

2017· article· en· W2591909999 on OpenAlexafffund
Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram, Rohan Patel, J. Andrew Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A. Buchanan, Susan Walker, Christian R. Marshall, Mohammed Uddin, Mehdi Zarrei, Éric Deneault, Lia D’Abate, Ada J. S. Chan, Stephanie Koyanagi, Tara Paton, Sérgio L. Pereira, Ny Hoang, Worrawat Engchuan, Edward J. Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R. MacDonald, Thomas Nalpathamkalam, Wilson W. L. Sung, Fiona J. Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael J. Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury‐Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy A.R. Doyle‐Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion‐Lemieux, Isabel M. Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H. Cook, Stephen R. Dager, Annette Estes, Louise Gallagher, Beth A. Malow, Jeremy Parr, Sarah Spence, Jacob Vorstman, Brendan J. Frey, James Robinson, Lisa J. Strug, Bridget A. Fernandez, Mayada Elsabbagh, Melissa T. Carter, Joachim Hallmayer, Bartha Maria Knoppers, Evdokia Anagnostou, Péter Szatmári, Robert H. Ring, David Glazer, Mathew T. Pletcher, Stephen W. Scherer

Bibliographic record

VenueNature Neuroscience · 2017
Typearticle
Languageen
FieldNeuroscience
TopicAutism Spectrum Disorder Research
Canadian institutionsChildren's Hospital of Eastern OntarioMemorial University of NewfoundlandCentre for Addiction and Mental HealthChildren’s Health Research InstituteIzaak Walton Killam Health CentreHolland Bloorview Kids Rehabilitation HospitalMcMaster UniversityUniversity of AlbertaMcGill UniversityDalhousie UniversitySickKids FoundationWestern UniversityUniversity of TorontoQueen's UniversityOntario GenomicsPublic Health OntarioHospital for Sick Children
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Cancer InstituteCanadian Institutes of Health Research
KeywordsAutism spectrum disorderCopy-number variationAutismGeneticsGeneCandidate geneBiologyGenomePhenotypeGenome-wide association studySingle-nucleotide polymorphismComputational biologyGenotypePsychologyPsychiatry

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 score0.007
Threshold uncertainty score0.025

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0010.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0070.001

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 head0.042
GPT teacher head0.333
Teacher spread0.291 · 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

Citations936
Published2017
Admission routes2
Has abstractno

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