{"id":"W4307657653","doi":"10.1038/s41588-022-01203-y","title":"Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p","year":2022,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Human Genome Research Institute; Novo Nordisk Fonden; National Institute of Mental Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Aarhus Universitet; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Novo Nordisk; National Cancer Institute; U.S. Department of Health and Human Services; National Institutes of Health; U.S. National Library of Medicine; H. Lundbeck A/S; Lundbeckfonden; Simons Foundation Autism Research Initiative","keywords":"Biology; Autism; Genetics; Chromosome; Evolutionary biology; Convergence (economics); Computational biology; Gene; Developmental psychology","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":[0.003881944,0.0003838362,0.0005007397,0.002405978,0.0003410235,0.0008017084,0.0004330598,0.0002989276,0.001244478],"category_scores_gemma":[0.01260102,0.0002843994,0.000669052,0.001148397,0.001586536,0.0005448613,0.001141699,0.0006073638,0.0001204519],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002820924,"about_ca_system_score_gemma":0.0003529901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009896269,"about_ca_topic_score_gemma":0.001225295,"domain_scores_codex":[0.9974687,0.0009911106,0.0001472669,0.0007225866,0.0005309125,0.0001394371],"domain_scores_gemma":[0.984781,0.01178304,0.001322939,0.001368652,0.0003754943,0.0003688537],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001294806,0.00007144707,0.6451764,0.0002571103,0.001552246,0.00208927,0.0007921509,0.0213807,0.2349457,0.008937781,0.0001749022,0.08332752],"study_design_scores_gemma":[0.00004148705,0.0002406732,0.9096119,0.00001885734,0.0003923597,0.001876832,0.0003196585,0.05494931,0.01704822,0.01490827,0.0005301508,0.00006226602],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9585108,0.0002401629,0.03996144,0.0000734236,0.000006468863,0.00001395334,0.0001527184,0.0001224269,0.0009186581],"genre_scores_gemma":[0.9959628,0.00004894127,0.003747742,0.00001225291,0.000008369591,0.000009646882,0.0001030788,0.00001971894,0.000087451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003881944,"threshold_uncertainty_score":0.02052993,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005960049162336067,"score_gpt":0.2224900080745382,"score_spread":0.2165299589122021,"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."}}