{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004280311,0.0001056564,0.0004133264,0.0001019127,0.00002921333,0.00001316456,0.0001440607,0.000146415,0.0005257479],"category_scores_gemma":[0.0007695631,0.00008758066,0.0001547917,0.0001725239,0.0002527717,0.00001356182,0.0001104506,0.0003880973,0.000003839884],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002271986,"about_ca_system_score_gemma":0.0008979606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004463683,"about_ca_topic_score_gemma":0.00002198864,"domain_scores_codex":[0.9978512,0.00009536183,0.0005430984,0.0001369154,0.001155387,0.0002180719],"domain_scores_gemma":[0.9986634,0.0001783411,0.0001606223,0.0002017378,0.0002855042,0.0005104405],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0009153772,0.003197411,0.2627466,0.001127417,0.002312882,0.006709934,0.001339823,0.00008863579,0.164843,0.0005773656,0.004535891,0.5516057],"study_design_scores_gemma":[0.02843861,0.004803982,0.5252249,0.0009081161,0.001550062,0.009944377,0.002678588,0.004424847,0.3012105,0.001853749,0.1183689,0.0005935064],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9695776,0.02388487,0.001077922,0.00491977,0.0001767499,0.0001369016,0.000003578078,0.000003106638,0.0002194755],"genre_scores_gemma":[0.957813,0.03743549,0.003859957,0.0005157174,0.0002619573,0.00000110401,0.000002842744,0.00002156988,0.00008837532],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5510122,"threshold_uncertainty_score":0.5756571,"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."}}