{"id":"W2343533665","doi":"10.1002/ajmg.a.37684","title":"Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events","year":2016,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Institute of Genetics; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Government of Canada; McGill University","keywords":"Brachydactyly; Exome sequencing; Genetics; Exome; Etiology; Genetic heterogeneity; Spastic; Phenocopy; Medicine; Pediatrics; Biology; Mutation; Short stature; Pathology; Phenotype; Gene; Physical medicine and rehabilitation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004794575,0.0001901245,0.0004392812,0.00007940171,0.000048686,0.00001077822,0.0005360197,0.0001049492,0.0001403866],"category_scores_gemma":[0.0003992214,0.0001232915,0.0002510648,0.0001249388,0.000417616,0.000006856528,0.0001035224,0.0001274743,0.00000854951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003253783,"about_ca_system_score_gemma":0.0004893603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009665925,"about_ca_topic_score_gemma":0.000004226398,"domain_scores_codex":[0.9979652,0.0001254512,0.000620352,0.0002452499,0.0007569757,0.0002867774],"domain_scores_gemma":[0.9982889,0.00009190536,0.0006415937,0.0003296462,0.0001935066,0.000454472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007678236,0.001126337,0.4494524,0.0002152968,0.001837712,0.002154353,0.001013981,0.00009719493,0.4116088,0.00004156189,0.02336677,0.1083178],"study_design_scores_gemma":[0.01619356,0.03210472,0.4698262,0.008157467,0.001308568,0.04944736,0.006113493,0.0004386103,0.2523895,0.001742219,0.1580284,0.004249874],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947577,0.001211703,0.00254387,0.0008404668,0.0002496944,0.00009221732,0.0002861411,0.000002846494,0.00001532978],"genre_scores_gemma":[0.9962456,0.002673403,0.000524519,0.0003402044,0.00009206898,0.000004839128,0.0000258507,0.00001671191,0.00007677432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1592193,"threshold_uncertainty_score":0.5027679,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02185865974890044,"score_gpt":0.2883321766827805,"score_spread":0.2664735169338801,"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."}}