{"id":"W2260042699","doi":"10.1136/jmedgenet-2015-103270","title":"Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"Janeway Children's Health and Rehabilitation Centre; McMaster University; London Health Sciences Centre; McMaster Children's Hospital; University of Alberta; University of Toronto; Montreal Children's Hospital; Queen's University; Centre Hospitalier Universitaire Sainte-Justine; CancerCare Manitoba; Population Health Research Institute; Genome Canada; Children's Hospital of Eastern Ontario; BC Children's Hospital; SickKids Foundation; Centre Hospitalier Universitaire de Sherbrooke; Princess Margaret Cancer Centre; Stollery Children's Hospital; Alberta Children's Hospital; Izaak Walton Killam Health Centre; University of Saskatchewan; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Sanger sequencing; Genotyping; Medicine; Mutation; Fanconi anemia; Bioinformatics; Genetic testing; Genotype; Genetics; Bone marrow failure; DNA sequencing; Phenotype; Gene; Biology; DNA repair","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0301626,0.0005719278,0.0007784005,0.002331799,0.0003235395,0.001440439,0.001013716,0.0008945215,0.0007174542],"category_scores_gemma":[0.04984016,0.0002042643,0.0003646516,0.0009357437,0.0006508069,0.001005742,0.001370451,0.001037051,0.0001691972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001227819,"about_ca_system_score_gemma":0.001871914,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002079704,"about_ca_topic_score_gemma":0.003834395,"domain_scores_codex":[0.9851301,0.009707267,0.001626499,0.001135636,0.002103164,0.0002973822],"domain_scores_gemma":[0.9666283,0.02062141,0.005158187,0.00216752,0.004760043,0.0006645286],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005012378,0.0001921048,0.6498993,0.0005942976,0.0003139554,0.0004549649,0.0009611439,0.007212733,0.01656161,0.004813299,0.007380709,0.3111146],"study_design_scores_gemma":[0.0002279888,0.001069821,0.8174814,0.001128267,0.0005300308,0.00746557,0.0009031781,0.09307935,0.03568042,0.01542373,0.02684094,0.0001693447],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6514959,0.01820123,0.311962,0.009311523,0.0004024088,0.0005266911,0.001453961,0.0009998331,0.005646507],"genre_scores_gemma":[0.8205611,0.001856859,0.1746157,0.001399382,0.0001760375,0.0002261786,0.000847006,0.00005424316,0.0002635675],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0301626,"threshold_uncertainty_score":0.159517,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1963530863585887,"score_gpt":0.3456743519825587,"score_spread":0.1493212656239701,"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."}}