{"id":"W3095045701","doi":"10.1182/blood-2020-140793","title":"Genotypic and Phenotypic Spectrum of Dyskeratosis Congenita: Results from the Canadian Inherited Marrow Failure Registry","year":2020,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Janeway Children's Health and Rehabilitation Centre; Queen's University; Centre hospitalier de l'Université Laval; Centre Hospitalier Universitaire de Sherbrooke; London Health Sciences Centre; McMaster Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; Stollery Children's Hospital; Izaak Walton Killam Health Centre; Alberta Children's Hospital; University Health Network; CancerCare Manitoba; Princess Margaret Cancer Centre; Kingston General Hospital; University of Calgary; Children's Hospital of Eastern Ontario; Montreal Children's Hospital; University of Manitoba; BC Children's Hospital; SickKids Foundation; Université de Montréal; Hospital for Sick Children","funders":"","keywords":"Dyskeratosis congenita; Medicine; Bone marrow failure; Internal medicine; Hazard ratio; Myelodysplastic syndromes; Bone marrow; Survival analysis; Oncology; Telomere; Haematopoiesis; Biology; 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":[0.001051911,0.0003574544,0.000376277,0.003348593,0.001573596,0.000763205,0.001099656,0.0003322598,0.002976736],"category_scores_gemma":[0.003559088,0.0002398643,0.0005189775,0.006546831,0.0003477938,0.0002516909,0.0007915749,0.0003981315,0.0006390492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01313667,"about_ca_system_score_gemma":0.02096192,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9731833,"about_ca_topic_score_gemma":0.9835637,"domain_scores_codex":[0.9981928,0.00008561901,0.0001295033,0.0002543957,0.0008808511,0.0004569268],"domain_scores_gemma":[0.9949511,0.0002269521,0.0009153841,0.0001694893,0.00309999,0.000636945],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007962112,0.00001650059,0.9930883,0.00004615228,0.00003334805,0.00009644002,0.000201554,0.0001100673,0.0001327124,0.00006021207,0.002926462,0.003208564],"study_design_scores_gemma":[0.000006878844,0.000009660824,0.9982538,0.00001992699,0.00001749546,0.0001069184,0.0001851564,0.00008979318,0.00004892014,0.000007978237,0.001247508,0.000005957056],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.892488,0.0007381635,0.0001736484,0.0002848763,0.00001025734,0.0002205693,0.09851452,0.0000468185,0.007523113],"genre_scores_gemma":[0.9612093,0.0005409326,0.0003489895,0.0001131603,0.000008345401,0.00009074181,0.03640817,0.00001360762,0.001266751],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02681667,"threshold_uncertainty_score":0.09531367,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01879321634285528,"score_gpt":0.2109117726246973,"score_spread":0.192118556281842,"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."}}