{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009901092,0.0002290631,0.0001902856,0.00003586549,0.0001251874,0.00004109809,0.0001574408,0.0001431106,0.00006310062],"category_scores_gemma":[0.00003508282,0.0001668143,0.00006342693,0.00007597198,0.0001268612,0.000009159216,0.00007410778,0.00006907067,0.00001377105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002260384,"about_ca_system_score_gemma":0.000186902,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003084392,"about_ca_topic_score_gemma":0.0002305688,"domain_scores_codex":[0.9988107,0.00008268763,0.0001987192,0.0004312804,0.0001407907,0.0003357879],"domain_scores_gemma":[0.9993545,0.00001474724,0.0001099889,0.0003347913,0.0000647355,0.0001212508],"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":[0.000274123,0.0003466691,0.1409047,0.00006037248,0.0007362874,0.00004779119,0.0001347771,0.00002129767,0.8148795,0.03915021,0.001363421,0.002080846],"study_design_scores_gemma":[0.01621756,0.00535959,0.6579672,0.0007453798,0.0004739624,0.0006564791,0.0006879371,0.00005386882,0.2863387,0.01180337,0.01638753,0.00330855],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920151,0.00103161,0.003730939,0.001375609,0.0001783652,0.0001674502,0.00007048105,0.00003416374,0.001396233],"genre_scores_gemma":[0.9980838,0.00004779996,0.0006075635,0.0005498596,0.00008266984,0.00002451849,0.00008420954,0.00003582167,0.0004837133],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5285408,"threshold_uncertainty_score":0.6802491,"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."}}