{"id":"W4220830847","doi":"10.1101/2022.03.23.22272826","title":"Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Simons Foundation Autism Research Initiative; Stanley Center for Psychiatric Research, Broad Institute; National Cancer Institute; National Institutes of Health; U.S. National Library of Medicine; H. Lundbeck A/S; Simons Foundation; Lundbeckfonden; National Institute of Mental Health; Aarhus Universitet; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Novo Nordisk; Novo Nordisk Fonden","keywords":"Genetics; Biology; Gene; Copy-number variation; Single-nucleotide polymorphism; Autism spectrum disorder; Autism; Chromatin; Genome-wide association study; Chromosome; Genome; Computational biology; Genotype; Medicine","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":[0.004256266,0.0004054982,0.0005961509,0.002497702,0.0003243644,0.0008708992,0.0005988157,0.0006130189,0.002682875],"category_scores_gemma":[0.01275042,0.000283891,0.001002266,0.001289333,0.001059763,0.0004334406,0.00103992,0.000707437,0.0002244891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002486408,"about_ca_system_score_gemma":0.0002320364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001525313,"about_ca_topic_score_gemma":0.0008278113,"domain_scores_codex":[0.9968846,0.001137514,0.0001878503,0.001160075,0.0004617004,0.0001681968],"domain_scores_gemma":[0.9833149,0.01200999,0.002025849,0.00159398,0.0004296843,0.0006256847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001452762,0.00005130111,0.9076374,0.0001044768,0.002241289,0.001136197,0.0002743785,0.008069014,0.05899578,0.001769639,0.0003487192,0.01791904],"study_design_scores_gemma":[0.0000695552,0.0002958342,0.9422001,0.00001503452,0.0004952583,0.001606186,0.000221822,0.04632634,0.004540674,0.00378841,0.0003954858,0.00004535731],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861558,0.0002109044,0.01252682,0.00009819812,0.0000110207,0.00001236749,0.0004514868,0.0001326478,0.0004007731],"genre_scores_gemma":[0.9984456,0.00002532147,0.001166655,0.00001718029,0.00001167297,0.000009111097,0.0002164321,0.00002008922,0.00008805882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004256266,"threshold_uncertainty_score":0.02250952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008874854572535687,"score_gpt":0.2240142282923622,"score_spread":0.2151393737198266,"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."}}