{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003864685,0.0003313588,0.0003528762,0.001071786,0.0005026447,0.0004837255,0.0002257043,0.0004636529,0.001356955],"category_scores_gemma":[0.001036843,0.0001897035,0.0004934965,0.0007878491,0.0003019264,0.0001470335,0.0005894312,0.0003810388,0.0002382774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001889543,"about_ca_system_score_gemma":0.0001546404,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008539635,"about_ca_topic_score_gemma":0.001763986,"domain_scores_codex":[0.9996395,0.00005054151,0.00004271156,0.0001340182,0.00008453704,0.00004876683],"domain_scores_gemma":[0.9994695,0.0001709239,0.0001501618,0.00007149004,0.00004334085,0.00009464464],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002509077,0.0001740548,0.5734456,0.0002424066,0.0007904357,0.04353075,0.002488621,0.0006734873,0.3475376,0.0007808082,0.001174184,0.02665291],"study_design_scores_gemma":[0.0001048427,0.0003989104,0.8818403,0.00006684227,0.000474123,0.09039503,0.0007027593,0.001487462,0.01950375,0.0005864389,0.004400123,0.00003942095],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998148,0.0002159162,0.0008201207,0.00003331441,0.000009445403,0.00001851191,0.0004251903,0.000007850627,0.0003217522],"genre_scores_gemma":[0.9960289,0.0003231112,0.001956249,0.00006604187,0.00001457494,0.00002508728,0.001171882,0.00002564721,0.0003884679],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001356955,"threshold_uncertainty_score":0.00453949,"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."}}