{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003944127,0.00009915142,0.0001436844,0.0001395886,0.0002922505,0.00003791096,0.0001520116,0.00008655478,0.000170959],"category_scores_gemma":[0.00003578945,0.00009991802,0.00006611123,0.0002494496,0.0002560173,0.000003421759,0.0001281372,0.00005567903,0.000004308074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001399789,"about_ca_system_score_gemma":0.00007464728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000103762,"about_ca_topic_score_gemma":0.0004221699,"domain_scores_codex":[0.9989717,0.0000746608,0.000225531,0.0002742728,0.0001788096,0.0002750129],"domain_scores_gemma":[0.999325,0.00003107822,0.00005733317,0.0002281172,0.0002843811,0.00007405198],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002961683,0.0004551733,0.4901744,0.0001136366,0.001510135,6.1208e-7,0.003148159,0.0001262242,0.4888651,0.009328367,0.004193692,0.001788327],"study_design_scores_gemma":[0.001469362,0.002323946,0.9036188,0.000007696137,0.0002561688,0.000002310048,0.001053262,0.0007408002,0.06352077,0.005197359,0.02140077,0.0004087232],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965571,0.00008636586,0.00163821,0.00005506426,0.00003925891,0.0002287531,0.00006093205,0.00000487338,0.001329421],"genre_scores_gemma":[0.9963077,0.0001164317,0.001804892,0.00003134184,0.0001475573,0.00003538727,0.0002672433,0.00001447497,0.001274923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4253443,"threshold_uncertainty_score":0.4074539,"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."}}