{"id":"W2767052129","doi":"10.1111/cge.13158","title":"Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia","year":2017,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Institute for Clinical Evaluative Sciences; Health and Social Services Centre University Institute of Geriatrics of Sherbrooke; BC Children's Hospital; Centre hospitalier de l'Université Laval; Centre Hospitalier Universitaire de Sherbrooke; McMaster Children's Hospital; Alberta Health; Janeway Children's Health and Rehabilitation Centre; University of Alberta; SickKids Foundation; Alberta Health Services; Princess Margaret Cancer Centre; Hospital for Sick Children; University of Saskatchewan; Izaak Walton Killam Health Centre; Alberta Children's Hospital; Queen's University; Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Western Ontario; CancerCare Manitoba; Children's Hospital of Eastern Ontario; Health Sciences Centre; Montreal Children's Hospital","funders":"C17 Council; Canadian Institutes of Health Research; American Society of Hematology","keywords":"Diamond–Blackfan anemia; Phenotype; Genotype; Genetics; Correlation; Genotype-phenotype distinction; Biology; Gene; RNA","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":[0.0002439114,0.0002259409,0.0002437696,0.00102907,0.0003441444,0.0003375947,0.0001841303,0.0002279068,0.001203132],"category_scores_gemma":[0.001159316,0.0001428299,0.0001370438,0.0005315983,0.0003070216,0.00007725403,0.0001922995,0.000178015,0.0001475529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00047351,"about_ca_system_score_gemma":0.0005532522,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02026523,"about_ca_topic_score_gemma":0.01711295,"domain_scores_codex":[0.9997422,0.00004245978,0.00002726998,0.00005169931,0.00007811069,0.00005828586],"domain_scores_gemma":[0.999584,0.0001355303,0.0001008758,0.00001684149,0.00007008525,0.00009265469],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002025686,0.00003039666,0.9807664,0.00001350644,0.00003900418,0.001580006,0.0001183696,0.0001526329,0.01189809,0.00007415818,0.00008344415,0.005041381],"study_design_scores_gemma":[0.00001292193,0.00009339405,0.9920872,0.000004828864,0.00002875336,0.005395792,0.0001887335,0.0003319615,0.001470071,0.00003437171,0.0003465347,0.00000546639],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995629,0.00009784735,0.00007161779,0.00001350134,0.00000112669,0.000003169145,0.00006435028,0.00000181849,0.0001836819],"genre_scores_gemma":[0.9995309,0.00008223774,0.0001619392,0.00001054103,0.000001390779,0.000002552413,0.0001215831,0.000001442529,0.0000874973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02026523,"threshold_uncertainty_score":0.04029453,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02669913849118109,"score_gpt":0.348161980946268,"score_spread":0.3214628424550869,"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."}}