{"id":"W2908634494","doi":"10.1101/516625","title":"Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Mental Health; Simons Foundation Autism Research Initiative; DNA Genotek; Simons Foundation; Autism Speaks","keywords":"Autism; Exome sequencing; Genetics; Autism spectrum disorder; Genotyping; Gene; Exome; Biology; Medicine; Genotype; Mutation; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001357771,0.000770273,0.000884012,0.002156002,0.001043116,0.0007782985,0.0004395315,0.0007287418,0.006414366],"category_scores_gemma":[0.00368806,0.000344215,0.001122035,0.002335696,0.000367004,0.0003442201,0.001442316,0.0004048329,0.001614041],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004286456,"about_ca_system_score_gemma":0.0005524352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004257732,"about_ca_topic_score_gemma":0.007033472,"domain_scores_codex":[0.9980941,0.0003212302,0.0002187331,0.000781998,0.0004001246,0.0001838504],"domain_scores_gemma":[0.9981446,0.0007363088,0.0002937624,0.0003035736,0.0002927145,0.0002289705],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002454715,0.0002550873,0.7682023,0.001417119,0.002405461,0.01247467,0.002633853,0.001053402,0.06908422,0.00122213,0.04401027,0.09478675],"study_design_scores_gemma":[0.0002794932,0.0002565997,0.9319397,0.0002111408,0.0008906247,0.01030749,0.0007145064,0.0008576488,0.006185666,0.001195087,0.04708219,0.00007989963],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9275497,0.002598969,0.00431742,0.0004575119,0.00007223363,0.0001589641,0.06020187,0.0003126019,0.00433074],"genre_scores_gemma":[0.8948419,0.00192515,0.007853298,0.0008922704,0.00008872728,0.0005246422,0.0904313,0.0002012687,0.003241415],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006414366,"threshold_uncertainty_score":0.02145815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.129771593832151,"score_gpt":0.3244519049723204,"score_spread":0.1946803111401694,"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."}}