{"id":"W2119907069","doi":"10.1016/j.ajhg.2007.12.009","title":"Structural Variation of Chromosomes in Autism Spectrum Disorder","year":2008,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1843,"is_retracted":false,"has_abstract":false,"ca_institutions":"Holland Bloorview Kids Rehabilitation Hospital; University of Alberta; McMaster University; North York General Hospital; Western University; Hospital for Sick Children; University of British Columbia; Memorial University of Newfoundland; Centre for Addiction and Mental Health; SickKids Foundation; University of Toronto","funders":"Autism Speaks","keywords":"Copy-number variation; Genetics; Autism spectrum disorder; Gene duplication; Biology; Structural variation; Autism; Microarray; Segmental duplication; Gene dosage; Single-nucleotide polymorphism; Gene; Genome; Genotype; Medicine; Gene family; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002721035,0.0006743859,0.0004245141,0.003201161,0.0004802755,0.0003376167,0.0005636036,0.0008327731,0.003897965],"category_scores_gemma":[0.001474847,0.0002597874,0.0003286072,0.001450268,0.0005299935,0.0002420461,0.0005242245,0.0004442533,0.0003085316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002677244,"about_ca_system_score_gemma":0.0001895024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002421321,"about_ca_topic_score_gemma":0.001996651,"domain_scores_codex":[0.9996431,0.00009874306,0.00004862596,0.00007201421,0.0001022192,0.00003528439],"domain_scores_gemma":[0.9992662,0.0003271271,0.0002125793,0.00003952993,0.00007054074,0.00008394417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.007570155,0.0003907281,0.4115085,0.0003388941,0.0009524071,0.0375954,0.001558922,0.003851794,0.4786209,0.006504514,0.002009452,0.04909832],"study_design_scores_gemma":[0.0001600948,0.0003007084,0.9528098,0.00003963887,0.0002366231,0.02296057,0.0003152533,0.001254915,0.01717878,0.002070196,0.002639753,0.00003360647],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959894,0.0009316407,0.0005800825,0.0002994933,0.00004000108,0.000009860067,0.0003922737,0.00003082319,0.00172631],"genre_scores_gemma":[0.998639,0.0002877022,0.0004746693,0.000041884,0.00002904484,0.000005124421,0.0001619912,0.000009752389,0.0003506786],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003897965,"threshold_uncertainty_score":0.01304001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008810459800998462,"score_gpt":0.230564531301595,"score_spread":0.2217540715005965,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}