{"id":"W2417745261","doi":"10.1038/mp.2016.84","title":"Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes","year":2016,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":124,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"SystemsX.ch; Université de Lausanne; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Fondation Leenaards; European Commission; Simons Foundation Autism Research Initiative; Simons Foundation; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Science Foundation","keywords":"Genetics; Biology; Phenotype; Copy-number variation; Chromatin; Autism; Locus (genetics); Macrocephaly; Gene duplication; Comparative genomic hybridization; Gene; Chromosome; Genome; 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":[0.00009859711,0.0004332417,0.000254786,0.001356667,0.0002627,0.000309271,0.000250901,0.0003696416,0.003707878],"category_scores_gemma":[0.0005992388,0.0002473043,0.0002579833,0.0007539084,0.0002524335,0.0001611381,0.0007151963,0.0002945423,0.0004639005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001841644,"about_ca_system_score_gemma":0.0001534923,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001691045,"about_ca_topic_score_gemma":0.002192507,"domain_scores_codex":[0.9997308,0.0000311359,0.00001714659,0.0001097764,0.00006690401,0.00004424329],"domain_scores_gemma":[0.999665,0.00005916292,0.0001767276,0.00002539295,0.00001867323,0.00005495711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005155464,0.00003768397,0.09021678,0.00008842058,0.0001235537,0.001639261,0.0002342134,0.000465641,0.8990206,0.0003825979,0.0001369499,0.007138845],"study_design_scores_gemma":[0.00001695489,0.00008700714,0.9420951,0.0000173802,0.0001093904,0.004075851,0.0001604614,0.001321968,0.05020678,0.0005805897,0.001312564,0.00001599896],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958714,0.0003540701,0.002072054,0.00002541537,0.000007975037,0.00001001633,0.0006951754,0.0000456858,0.0009183232],"genre_scores_gemma":[0.9975901,0.0001022199,0.0009976156,0.00001155224,0.00000603455,0.0000139233,0.0005523577,0.00001064524,0.0007155563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003707878,"threshold_uncertainty_score":0.01240408,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006192952697336713,"score_gpt":0.2077497149851222,"score_spread":0.2015567622877855,"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."}}