A genome-wide scan for common alleles affecting risk for autism
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Full frame distilled prediction
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.
- Candidate categories
- Meta-epidemiology (narrow)
- Consensus categories
- none
- Domain
- Candidate signal: noneConsensus signal: none
- Study design
- Candidate signal: Bench or experimentalConsensus signal: Bench or experimental
- Genre
- Candidate signal: EmpiricalConsensus signal: Empirical
- Teacher disagreement score
- 0.242
- Threshold uncertainty score
- 1.000
- Validation status
machine_predicted_unvalidated·codex-gemma-dda1882f352a
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
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.
- Teacher spread
- 0.291 · how far apart the two teachers sit on this one work
- Validation status
score_only:v0-immature-baseline· verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it
Abstract
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
The record
- Venue
- Human Molecular Genetics
- Topic
- Autism Spectrum Disorder Research
- Field
- Neuroscience
- Canadian institutions
- University of AlbertaMcMaster UniversityMcGill UniversityConcordia UniversityCentre for Addiction and Mental HealthMemorial University of NewfoundlandHolland Bloorview Kids Rehabilitation HospitalUniversity of TorontoSickKids FoundationHospital for Sick Children
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Neurological Disorders and StrokeNational Cancer InstituteNational Institute on Drug AbuseNational Institute of Mental HealthNational Institute on Alcohol Abuse and AlcoholismOntario Ministry of Research and InnovationMedical Research CouncilCanadian Institutes of Health ResearchFondation de FranceHospital for Sick ChildrenMinistero della SaluteInstitut National de la Santé et de la Recherche MédicaleOntario Genomics InstituteNational Human Genome Research InstituteFondation OrangeNational Institutes of HealthOntario GenomicsFondation FondaMentalKoninklijke Nederlandse Akademie van WetenschappenOntario Innovation TrustHoward Hughes Medical InstituteHussman FoundationNederlandse Organisatie voor Wetenschappelijk OnderzoekWellcome TrustGenome CanadaHealth Research BoardDeutsche ForschungsgemeinschaftGlaxoSmithKlineUniversity of TorontoAutism SpeaksSick Kids FoundationJohns Hopkins University
- Keywords
- BiologyGeneticsSingle-nucleotide polymorphismAutismGenome-wide association studyGenetic associationAlleleSNPGenotypeMinor allele frequencySample size determinationAllele frequencyGeneMedicine
- Has abstract in OpenAlex
- yes