{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001266898,0.0002011955,0.0003301867,0.00008116727,0.0001303285,0.0002236027,0.0007457176,0.0001577594,0.00009834528],"category_scores_gemma":[0.0003885222,0.0001484533,0.0000956019,0.0004351717,0.0004104612,0.0001593423,0.0004403627,0.0007621019,0.0003593303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005476825,"about_ca_system_score_gemma":0.0001794972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005886216,"about_ca_topic_score_gemma":0.0001173506,"domain_scores_codex":[0.9968514,0.0005732451,0.0006127084,0.0008181877,0.000528609,0.0006157976],"domain_scores_gemma":[0.9979085,0.001024949,0.0001106546,0.0008383483,0.000003383631,0.0001141843],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006129215,0.0004284821,0.9103839,0.00005560776,0.00001975785,0.0002598683,0.0008755201,0.0006408972,0.01461807,0.07047413,0.00005440094,0.002128083],"study_design_scores_gemma":[0.0008306811,0.0004005916,0.9558443,0.00001943242,0.00001507417,0.00004958911,0.0001269424,0.004672654,0.0001945929,0.03075148,0.006810103,0.0002845727],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.982928,0.0005185632,0.000433686,0.01211673,0.0002839467,0.0008963098,0.00002491055,0.00003217412,0.002765701],"genre_scores_gemma":[0.995937,0.001184119,0.0001026568,0.001498313,0.00007435576,0.00002253815,0.000004633084,0.00003503101,0.001141275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0454604,"threshold_uncertainty_score":0.6053751,"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."}}