{"id":"W3152207758","doi":"10.1136/jmedgenet-2020-107595","title":"Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Centre Hospitalier Universitaire de Nice; Institut National de la Santé et de la Recherche Médicale; Agence de la Biomédecine; Agence Nationale de la Recherche","keywords":"Arthrogryposis multiplex congenita; Exome sequencing; Genetics; Sanger sequencing; Biology; Arthrogryposis; Genetic heterogeneity; Exome; Gene; Phenotype; Candidate gene; Disease gene identification; Bioinformatics; DNA sequencing","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":[0.000313257,0.0004403537,0.0001994764,0.001346058,0.0002076214,0.0002985727,0.0002111174,0.0002694349,0.001455827],"category_scores_gemma":[0.001109493,0.00009654606,0.0001371879,0.0005217624,0.0003048707,0.0001314465,0.0003254197,0.0001779553,0.0001581377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001950021,"about_ca_system_score_gemma":0.0001567909,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007285557,"about_ca_topic_score_gemma":0.0005628733,"domain_scores_codex":[0.9996829,0.00006810524,0.00003269283,0.0001102495,0.00006731944,0.00003879099],"domain_scores_gemma":[0.9995955,0.0001634624,0.0001210559,0.00001935303,0.00004798768,0.00005267326],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004417094,0.0001232065,0.9018005,0.0001084607,0.00007024038,0.03200264,0.000575255,0.0004913852,0.04378398,0.0003821733,0.0004176017,0.01980287],"study_design_scores_gemma":[0.00001363294,0.0001742826,0.9285716,0.00002406794,0.00005136692,0.06647959,0.0002035037,0.0005949801,0.003081996,0.0002620946,0.0005356969,0.000007196959],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985014,0.0002393462,0.0003195667,0.00003506326,0.000002115854,0.000007503292,0.0001849154,0.00001005517,0.0006999677],"genre_scores_gemma":[0.9991893,0.0001338509,0.0004105295,0.00001738435,0.000005128873,0.000005778482,0.0001527105,0.000003287307,0.00008195218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001455827,"threshold_uncertainty_score":0.004870176,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0249594739254708,"score_gpt":0.3169178146571904,"score_spread":0.2919583407317196,"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."}}