{"id":"W2770361158","doi":"10.1038/gim.2017.197","title":"Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants","year":2017,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Institute for Research in Immunology and Cancer","funders":"Rijksuniversiteit Groningen; Wellcome Trust; GlaxoSmithKline; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Science Foundation","keywords":"CHARGE syndrome; Proband; Hypogonadotropic hypogonadism; Kallmann syndrome; Exome sequencing; Genetics; Genotype; Phenotype; Charge (physics); Medical genetics; Mutation; Biology; Medicine; Internal medicine; Disease; Gene; Hormone; Physics","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":[0.0005608904,0.0002579255,0.0005826871,0.0003223218,0.0001562908,0.00002810633,0.0003214485,0.0001385032,0.0003635356],"category_scores_gemma":[0.001191052,0.0002250822,0.00005691191,0.0001567628,0.0002439108,0.00009908185,0.0001815941,0.0003972057,0.00008181459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001244897,"about_ca_system_score_gemma":0.0001008178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003481321,"about_ca_topic_score_gemma":0.0002921068,"domain_scores_codex":[0.9977747,0.00005399951,0.0006043179,0.000447874,0.0005982579,0.0005208554],"domain_scores_gemma":[0.9986942,0.00008594783,0.0001755071,0.0006988107,0.0001312587,0.0002142389],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001477232,0.0002284726,0.9425296,0.0001093158,0.00005375034,0.0006135915,0.0006085008,0.000004075264,0.005484292,0.0001318588,0.00005100532,0.05003777],"study_design_scores_gemma":[0.00694122,0.0009471051,0.9893055,0.0004012964,0.00007567408,0.00006450968,0.00006186515,0.001151712,0.0002832469,0.0002931494,0.0002622139,0.0002125239],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890291,0.001631693,0.000006021886,0.0008190378,0.0008153805,0.0005935858,0.00001116902,0.0000240198,0.007070005],"genre_scores_gemma":[0.9974033,0.0002603118,0.0004935365,0.0002439709,0.0002873846,0.00003437206,0.00002916548,0.00003832836,0.001209675],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04982525,"threshold_uncertainty_score":0.9178585,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07198890018216378,"score_gpt":0.3555062257233094,"score_spread":0.2835173255411456,"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."}}