{"id":"W2592147653","doi":"10.1182/blood.v126.23.3621.3621","title":"Molecular Analysis of Diamond Blackfan Anemia and Genotype-Phenotype Correlation: Experience from the Canadian Inherited Marrow Failure Registry","year":2015,"lang":"en","type":"article","venue":"Blood","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Janeway Children's Health and Rehabilitation Centre; London Health Sciences Centre; McMaster University; University of Alberta; Centre hospitalier universitaire de Québec; Centre Hospitalier Universitaire de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Western University; Royal University Hospital; Montreal Children's Hospital; University of Toronto; BC Children's Hospital; Princess Margaret Cancer Centre; Kingston General Hospital; Alberta Children's Hospital; Izaak Walton Killam Health Centre; University of Manitoba; CancerCare Manitoba; Population Health Research Institute; Children's Hospital of Eastern Ontario; Hospital for Sick Children","funders":"","keywords":"Diamond–Blackfan anemia; Medicine; Bone marrow failure; Internal medicine; Hematopoietic stem cell transplantation; Oncology; Anemia; Cohort; Transplantation; Bioinformatics; Genetics; Biology; Gene; Haematopoiesis; Stem cell","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002885809,0.0004054456,0.0002814217,0.001771396,0.001435991,0.0007235177,0.001052277,0.0003688877,0.001575595],"category_scores_gemma":[0.005924494,0.0002167515,0.0001847971,0.002565601,0.0006473051,0.0001914213,0.0008411975,0.000420942,0.0002785319],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008218251,"about_ca_system_score_gemma":0.01535411,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8140524,"about_ca_topic_score_gemma":0.8218758,"domain_scores_codex":[0.9974444,0.0003539396,0.0001034991,0.0003914716,0.001295678,0.0004110965],"domain_scores_gemma":[0.9948598,0.0007285941,0.000583353,0.0003086922,0.002581992,0.0009375931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001500451,0.00007621507,0.9698523,0.00003258679,0.0000230674,0.0008166363,0.0008805195,0.0001723927,0.001354207,0.0001610262,0.002846019,0.02363502],"study_design_scores_gemma":[0.00003066832,0.00009899545,0.9909767,0.00003312332,0.0000283505,0.001370303,0.0006308944,0.0005567878,0.0007725274,0.00004893615,0.005433968,0.0000187236],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909401,0.00104544,0.00052291,0.0005018878,0.00001925195,0.0001211552,0.00253379,0.00004190749,0.004273588],"genre_scores_gemma":[0.993958,0.001108634,0.001524335,0.0001656743,0.00001675649,0.00003780309,0.002329103,0.00002371483,0.0008361093],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1859476,"threshold_uncertainty_score":0.3740853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00836966612507545,"score_gpt":0.2204360046865347,"score_spread":0.2120663385614593,"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."}}