{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002648912,0.0001139876,0.0002792719,0.0002838382,0.00004547361,0.000005267043,0.0001544195,0.00005643634,0.0004541088],"category_scores_gemma":[0.0001929324,0.0001120698,0.00005189797,0.0003922982,0.00004046621,0.00006237642,0.0002177149,0.0003819266,0.00002283471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001758765,"about_ca_system_score_gemma":0.0001501518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007494257,"about_ca_topic_score_gemma":0.000004069537,"domain_scores_codex":[0.9984629,0.0001080409,0.0003225397,0.000251159,0.0005639831,0.0002913793],"domain_scores_gemma":[0.9993603,0.0001059569,0.00009266797,0.0002666864,0.00007356639,0.0001008145],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003401701,0.02735146,0.8567127,0.001705926,0.001256905,0.008432511,0.003594762,0.0008652129,0.08756255,0.0002549151,0.004098026,0.004763333],"study_design_scores_gemma":[0.01144224,0.002597546,0.9823574,0.0001069976,0.0001955651,0.0003554619,0.00007807456,0.0007541116,0.001650637,0.00004432942,0.0002763533,0.0001412716],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983531,0.00008867359,0.00001063268,0.0001731241,0.00009420024,0.000525907,0.0001499721,0.0000292175,0.0005751467],"genre_scores_gemma":[0.9987492,0.0000201868,0.0002202754,0.0001382432,0.00003659372,0.00008323826,0.0004075995,0.00002441832,0.0003202403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1256447,"threshold_uncertainty_score":0.4972173,"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."}}