{"id":"W2148816655","doi":"10.1007/s11689-011-9072-9","title":"Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism","year":2011,"lang":"en","type":"article","venue":"Journal of Neurodevelopmental Disorders","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; McMaster University; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Ontario Ministry of Research and Innovation; Medical Research Council; Canadian Institutes of Health Research; Fondation de France; Hospital for Sick Children; Ministero della Salute; National Institute of Mental Health; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Autism Speaks; Sick Kids Foundation; Ontario Genomics Institute; Fondation Orange; National Institutes of Health; Ontario Genomics; Fondation FondaMental; Koninklijke Nederlandse Akademie van Wetenschappen; Hussman Foundation; Genome Canada; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Health Research Board; Deutsche Forschungsgemeinschaft; GlaxoSmithKline; Ontario Innovation Trust; University of Toronto","keywords":"Genetic architecture; Genetics; Autism; Genetic linkage; Heritability of autism; Linkage (software); Biology; Genetic association; Genome; Genome-wide association study; Gene; Computational biology; Single-nucleotide polymorphism; Genotype; Psychology; Quantitative trait locus; Phenotype; Developmental psychology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008153767,0.0002111815,0.0005861256,0.0005945909,0.0001277564,0.00002545253,0.0004803282,0.00007467402,0.00003044675],"category_scores_gemma":[0.002571103,0.0001916465,0.0003150766,0.0007927542,0.0001255326,0.0001911993,0.0001308624,0.0002424358,3.872833e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008735822,"about_ca_system_score_gemma":0.0001827926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005455568,"about_ca_topic_score_gemma":0.000170585,"domain_scores_codex":[0.9976323,0.0001843539,0.0008814823,0.0003555096,0.0005788679,0.0003674926],"domain_scores_gemma":[0.996086,0.002350596,0.001191759,0.0001780099,0.00008029387,0.000113336],"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":[0.002410223,0.001118784,0.4694589,0.000662819,0.0008097488,0.000008732189,0.005836663,0.001134422,0.5069144,0.0008004482,0.00005346502,0.01079145],"study_design_scores_gemma":[0.002031521,0.0009706894,0.9650968,0.00005421987,0.0003180752,0.00001286424,0.00005945759,0.001388139,0.02357317,0.006230058,0.00006470607,0.0002002713],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.732645,0.0001767577,0.2648202,0.001506827,0.00009869131,0.0006100031,0.00007437748,0.000008767755,0.00005937012],"genre_scores_gemma":[0.9299825,0.0001673637,0.06960117,0.0001282504,0.000007587853,0.00002142524,0.000003340368,0.00002885602,0.00005951631],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.495638,"threshold_uncertainty_score":0.781512,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04148402775273393,"score_gpt":0.3140473363816354,"score_spread":0.2725633086289015,"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."}}