{"id":"W2799343775","doi":"10.1126/science.aan2261","title":"Paternally inherited cis-regulatory structural variants are associated with autism","year":2018,"lang":"en","type":"article","venue":"Science","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":220,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Institute of General Medical Sciences; National Institute of Mental Health; National Institutes of Health; GlaxoSmithKline; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Autism Speaks; California Institute for Regenerative Medicine; Genome Canada; Simons Foundation","keywords":"Autism; Genetics; Gene; Biology; Heritability of autism; Genome; Autism spectrum disorder; Structural variation; Copy-number variation; Neurodevelopmental disorder; Phenotype; Psychology; Developmental psychology","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":[0.000312673,0.0004350102,0.0003341167,0.0007384433,0.0003251198,0.0002748595,0.0002777496,0.0003139877,0.003832676],"category_scores_gemma":[0.002310903,0.0002722132,0.0002229946,0.0005981216,0.0003826348,0.0002015826,0.0003200373,0.0003697879,0.0003929913],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001205568,"about_ca_system_score_gemma":0.000155228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002016061,"about_ca_topic_score_gemma":0.00279194,"domain_scores_codex":[0.9994271,0.0001120175,0.00005804159,0.0002390405,0.0001153114,0.00004850588],"domain_scores_gemma":[0.9986398,0.000384069,0.0006155325,0.0001387177,0.00008996233,0.0001319651],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008490012,0.00005702162,0.9299151,0.00005788076,0.0001920901,0.002479522,0.0005169288,0.0002777061,0.05225361,0.0005361743,0.0003248729,0.01254005],"study_design_scores_gemma":[0.00002642449,0.0001617744,0.9842604,0.00001894675,0.0001396146,0.009168034,0.0001507527,0.0006136079,0.004363286,0.0003495204,0.000736667,0.00001110523],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982203,0.0002199649,0.0007654791,0.00003401822,0.000006069643,0.000002761578,0.0002409985,0.00001775389,0.0004925887],"genre_scores_gemma":[0.9989022,0.0001507003,0.0004460565,0.00001328666,0.00000871146,0.000002784366,0.0001821322,0.00001154709,0.0002827118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003832676,"threshold_uncertainty_score":0.01282156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02974968013598283,"score_gpt":0.2919257091847188,"score_spread":0.2621760290487359,"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."}}