{"id":"W2950165587","doi":"10.1017/thg.2017.69","title":"Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders","year":2018,"lang":"en","type":"article","venue":"Twin Research and Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Forskningsrådet om Hälsa, Arbetsliv och Välfärd; Hospital for Sick Children; Vetenskapsrådet; Stockholms Läns Landsting; Karolinska Institutet; University of Toronto; European Federation of Pharmaceutical Industries and Associations; Svenska Forskningsrådet Formas; VINNOVA; Stiftelsen för Strategisk Forskning; GlaxoSmithKline; Swedish Foundation for International Cooperation in Research and Higher Education; Åke Wiberg Stiftelse; Hjärnfonden","keywords":"Copy-number variation; Genetics; Biology; Concordance; Autism; Monozygotic twin; Structural variation; Gene; Genome; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007930048,0.0003935898,0.0006599422,0.002065994,0.000994647,0.0005790369,0.0003871147,0.0003837397,0.001411761],"category_scores_gemma":[0.005976966,0.0003760807,0.0005203437,0.001320349,0.0003816599,0.0001497029,0.001089531,0.0003233751,0.0003086993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003312335,"about_ca_system_score_gemma":0.0001964436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004692315,"about_ca_topic_score_gemma":0.004368613,"domain_scores_codex":[0.9984062,0.0002719439,0.0001699525,0.0006024025,0.0004320345,0.0001174711],"domain_scores_gemma":[0.9984764,0.0003378729,0.0002844541,0.0003211605,0.000394856,0.0001852111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00126154,0.0001076444,0.8938824,0.00009311726,0.0006838639,0.002253508,0.002609542,0.0003702312,0.08422469,0.0003849828,0.0005169812,0.01361152],"study_design_scores_gemma":[0.00002927,0.0002469233,0.9820716,0.00001380297,0.0002322769,0.00681666,0.000255915,0.000998811,0.007508047,0.0001528252,0.001655925,0.00001800938],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979298,0.0002495232,0.001109224,0.00001049631,0.00001182475,0.00003109434,0.0002595158,0.0000105424,0.0003879018],"genre_scores_gemma":[0.996305,0.0001393354,0.001685172,0.00002135223,0.000009281999,0.00004904964,0.001320018,0.00002351153,0.0004472941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004692315,"threshold_uncertainty_score":0.009330034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03504631664611112,"score_gpt":0.3391950257892038,"score_spread":0.3041487091430927,"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."}}