{"id":"W1851331577","doi":"10.1186/s13023-015-0314-x","title":"Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; Alberta Children's Hospital","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Center for Advancing Translational Sciences; Alberta Innovates - Health Solutions; National Institutes of Health; Child and Family Research Institute","keywords":"Exome sequencing; Hypoventilation; Medicine; Obesity; Human genetics; Exome; Genetics; Biology; Bioinformatics; Internal medicine; Mutation; Respiratory system; Gene","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":[0.0001669227,0.0001707158,0.00026061,0.0001228197,0.00006644968,0.00004087373,0.00009560805,0.0000647366,0.00001196927],"category_scores_gemma":[0.0001115285,0.000142847,0.00007568668,0.00007734068,0.0001280714,0.00003291151,0.00004442087,0.00005516605,5.801941e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004314046,"about_ca_system_score_gemma":0.0004768947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001408865,"about_ca_topic_score_gemma":0.00001098205,"domain_scores_codex":[0.9990413,0.00007412285,0.0003552855,0.0002059395,0.0001715068,0.0001518649],"domain_scores_gemma":[0.9987977,0.00002549928,0.0004334163,0.0001638298,0.0003040372,0.0002755665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002891971,0.0004765503,0.9296385,0.0002468942,0.0005575934,0.0002087462,0.0003943378,0.006304035,0.05142111,0.00007849131,0.003441653,0.004340102],"study_design_scores_gemma":[0.004037359,0.001620495,0.9759149,0.0001678127,0.0006474333,0.001622465,0.001158781,0.0006376992,0.01197725,0.0007724077,0.001007419,0.0004359712],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989777,0.009501082,0.000268764,0.00005668267,0.0001240128,0.0001355057,0.0001140442,0.000005215821,0.00001764584],"genre_scores_gemma":[0.9987522,0.0005253784,0.0003437348,0.00004614332,0.0001305413,0.000002265654,0.0001183288,0.00002041803,0.00006102215],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04627639,"threshold_uncertainty_score":0.582513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01225225993998847,"score_gpt":0.2120799806917666,"score_spread":0.1998277207517782,"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."}}