{"id":"W2942889615","doi":"10.1111/cge.13556","title":"Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Chicoutimi; McGill University; Brock University; Montreal Neurological Institute and Hospital; BC Children's Hospital; Canada's Michael Smith Genome Sciences Centre; Queen's University; University of British Columbia","funders":"Canada Foundation for Innovation; Wellcome Trust","keywords":"Genetics; Biology; Proband; Concordance; Autism spectrum disorder; Sanger sequencing; Genome-wide association study; Phenotype; Population; Genome; Gene; DNA sequencing; Computational biology; Single-nucleotide polymorphism; Autism; Genotype; Mutation; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001238829,0.0003959772,0.0006748186,0.001819054,0.000876874,0.0009247235,0.0005168368,0.0007661679,0.002048559],"category_scores_gemma":[0.004303824,0.0003633667,0.000517693,0.0006719095,0.0003789772,0.0002735737,0.001617451,0.0004250071,0.0007954851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000315692,"about_ca_system_score_gemma":0.0004352752,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005923197,"about_ca_topic_score_gemma":0.006867598,"domain_scores_codex":[0.9991836,0.00009763594,0.00009286079,0.0003322579,0.0002194616,0.00007413315],"domain_scores_gemma":[0.9991153,0.0001898828,0.00009487059,0.0002413994,0.0001798726,0.000178614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001634125,0.0002714829,0.9248616,0.0001349713,0.0005619541,0.01243949,0.001790831,0.0008629535,0.02740075,0.001115375,0.007532412,0.02139407],"study_design_scores_gemma":[0.000333927,0.0003263731,0.9580582,0.00006753945,0.0003127532,0.01730113,0.001011602,0.002287647,0.00349061,0.001083353,0.01565167,0.00007524274],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902531,0.0002797566,0.001084027,0.0001290664,0.00001491726,0.00006168142,0.006775791,0.00006912268,0.001332662],"genre_scores_gemma":[0.9795054,0.0003364188,0.0025438,0.0002036612,0.00002516979,0.0001532365,0.01556932,0.00008011341,0.001582732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005923197,"threshold_uncertainty_score":0.01177746,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05282306485437031,"score_gpt":0.3420688203763875,"score_spread":0.2892457555220172,"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."}}