{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003332448,0.0007792525,0.0004172372,0.002304186,0.0006172747,0.0008879119,0.0006164531,0.001078643,0.002933871],"category_scores_gemma":[0.001969666,0.0002566942,0.0005198623,0.0009326001,0.0005680626,0.0004079507,0.0006188655,0.0005600324,0.0003325177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004992387,"about_ca_system_score_gemma":0.0006469853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004482589,"about_ca_topic_score_gemma":0.003379865,"domain_scores_codex":[0.9995214,0.00005462621,0.00006535058,0.0001065341,0.000137683,0.0001144663],"domain_scores_gemma":[0.999313,0.0002958741,0.00009580081,0.00002136427,0.00009810989,0.0001757971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006033966,0.00006640513,0.8597161,0.00006441751,0.00008179015,0.1034537,0.0004978607,0.0003355578,0.02064476,0.0003130563,0.0007898852,0.01343323],"study_design_scores_gemma":[0.0001056711,0.0004006937,0.6820983,0.0001736986,0.0004281926,0.2948907,0.00259772,0.002774056,0.01055935,0.0008358536,0.005069586,0.00006629051],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995824,0.0009291805,0.0002584274,0.0001788286,0.00003742239,0.00002004571,0.0002211954,0.00001952947,0.002511402],"genre_scores_gemma":[0.9982207,0.0003821924,0.0006298433,0.0001119369,0.00003909446,0.000008668014,0.0002513003,0.00001368272,0.0003425085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004482589,"threshold_uncertainty_score":0.009814739,"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."}}