{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009987087,0.0006536732,0.0003303665,0.0009769417,0.0003030459,0.0003386535,0.000181923,0.0006283398,0.001926685],"category_scores_gemma":[0.0003926387,0.0001354508,0.0004663159,0.0008017794,0.0002948525,0.0002440824,0.0005038336,0.000370263,0.0003571517],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002151536,"about_ca_system_score_gemma":0.0001517536,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00161599,"about_ca_topic_score_gemma":0.002162492,"domain_scores_codex":[0.9998424,0.00001212569,0.0000176681,0.00005511241,0.00004685322,0.00002580999],"domain_scores_gemma":[0.9998952,0.00003086484,0.00003172837,0.000008233666,0.00001171196,0.00002228103],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00116274,0.000102985,0.1688745,0.0002746958,0.0005790452,0.2789802,0.001710821,0.0008874219,0.4663459,0.001962534,0.004062517,0.07505666],"study_design_scores_gemma":[0.00008271756,0.0002795645,0.4866246,0.00009094456,0.000333617,0.4425642,0.0006906221,0.001516738,0.04109666,0.00120268,0.02546771,0.00004994507],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940681,0.001138669,0.001797993,0.0002801178,0.00002469706,0.00001855935,0.0009381828,0.00004649036,0.001687132],"genre_scores_gemma":[0.9948952,0.0008372572,0.001547536,0.0001682149,0.00001653413,0.00001508302,0.001436895,0.00001559833,0.001067791],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001926685,"threshold_uncertainty_score":0.006445408,"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."}}