{"id":"W4291820501","doi":"10.1182/blood.2022015790","title":"Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages","year":2022,"lang":"en","type":"article","venue":"Blood","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen Elizabeth II Health Sciences Centre; Dalhousie University","funders":"National Institute of Allergy and Infectious Diseases; Office of Naval Research; Legend Biotech; Pharmacyclics; Kite Pharma; Sanofi Genzyme; Takeda Oncology; Health Resources and Services Administration; National Institutes of Health; MorphoSys; Omeros Corporation; Astellas Pharma; Adaptive Biotechnologies; Kiadis Pharma; TG Therapeutics; bluebird bio; Actinium Pharmaceuticals; CareDx; QEII Foundation; StemCyte; Medac; Jazz Pharmaceuticals; Health Sciences Centre Foundation; Damon Runyon Cancer Research Foundation; Karyopharm Therapeutics; HistoGenetics; Amgen; Accenture; U.S. Department of Defense; Sanofi; Astellas Pharma US; CSL Behring; Bristol-Myers Squibb; Seagen; Be The Match Foundation; National Heart, Lung, and Blood Institute; Edward P. Evans Foundation; Novartis Pharmaceuticals Corporation; Incyte; Pfizer; Daiichi Sankyo Europe; National Cancer Institute; Gilead Sciences","keywords":"Germline; Biology; Genetics; Exome sequencing; Internal medicine; Medicine; Gene; Oncology; Immunology; Mutation","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":[0.0003314018,0.0003242572,0.0004290646,0.001039639,0.0003783745,0.0004697042,0.0001929372,0.0004805961,0.001406593],"category_scores_gemma":[0.002148921,0.0003110266,0.0002584594,0.0007863408,0.0003384507,0.0003817975,0.0003985798,0.0003079638,0.0002414689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001015284,"about_ca_system_score_gemma":0.0001357774,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006609748,"about_ca_topic_score_gemma":0.0008096536,"domain_scores_codex":[0.999676,0.00007269378,0.00004256973,0.00009349058,0.00005642488,0.00005895781],"domain_scores_gemma":[0.9991685,0.0002364744,0.0003638929,0.00006993036,0.00004524363,0.0001159467],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001138662,0.000008379346,0.9949569,0.000007597069,0.00002283981,0.0009133272,0.00008695747,0.00003985644,0.001781372,0.00001540034,0.00004278798,0.002010686],"study_design_scores_gemma":[0.000009080261,0.00009412449,0.9922624,0.000005683648,0.00004085138,0.006447654,0.0001765006,0.0001138157,0.000481014,0.00009363887,0.0002696299,0.000005612468],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994141,0.0002176894,0.00006988947,0.00001434435,0.000002813759,0.000002998809,0.00007443158,0.00000475354,0.0001989362],"genre_scores_gemma":[0.9995907,0.0001354364,0.00008814241,0.000014971,0.000009016568,0.000003488278,0.0001016699,0.000001675007,0.0000548605],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001406593,"threshold_uncertainty_score":0.004705489,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01361311355185131,"score_gpt":0.2653413020340312,"score_spread":0.2517281884821799,"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."}}