{"id":"W4383216145","doi":"10.1182/bloodadvances.2023010045","title":"Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i>","year":2023,"lang":"en","type":"article","venue":"Blood Advances","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Foothills Medical Centre; Alberta Children's Hospital","funders":"Nemzeti Kutatási, Fejlesztési és Innovaciós Alap; National Health and Medical Research Council; Cancer Council South Australia; Medical Research Council; National Institutes of Health; Damon Runyon Cancer Research Foundation; Associazione Italiana per la Ricerca sul Cancro; NHLBI Division of Intramural Research; Royal Adelaide Hospital; Bundesministerium für Bildung und Forschung; Government of South Australia; European Commission; Hospital Research Foundation; Edward P. Evans Foundation; European Hematology Association","keywords":"RUNX1; Germline; GATA2; CEBPA; Germline mutation; Cancer research; Biology; Haematopoiesis; Somatic cell; Epigenetics; Genetics; Oncology; Medicine; Mutation; Gene; Stem cell","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003872629,0.0002064756,0.0005157553,0.0002505782,0.0000575667,0.00001507292,0.0001431522,0.00009147831,0.00006777447],"category_scores_gemma":[0.0002717257,0.0001791992,0.00005405489,0.000822738,0.0001828562,0.0002575861,0.0001040666,0.0002178201,0.00003303439],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002519693,"about_ca_system_score_gemma":0.0002045916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003587463,"about_ca_topic_score_gemma":0.00003354419,"domain_scores_codex":[0.9980802,0.00006468044,0.0005030442,0.0003699089,0.0005467146,0.000435452],"domain_scores_gemma":[0.9989344,0.0004269709,0.0001242392,0.0002666872,0.00009700363,0.0001506864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007776258,0.002154813,0.3888858,0.009345648,0.0007469202,0.006461254,0.004314442,0.0003950348,0.5362567,0.0009047377,0.0428037,0.006953251],"study_design_scores_gemma":[0.05017668,0.00273922,0.5193468,0.005225037,0.001099084,0.003700889,0.01016076,0.00857232,0.3677955,0.01304129,0.01575855,0.002383922],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882934,0.008814849,0.00002491458,0.001423363,0.00008911015,0.0004596471,0.0001644739,0.00009999493,0.0006302432],"genre_scores_gemma":[0.9952208,0.001879121,0.001165282,0.0002928399,0.0001218306,0.0000905671,0.0003019043,0.0000432747,0.0008843848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1684613,"threshold_uncertainty_score":0.7307532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01087925693761428,"score_gpt":0.2717886854290961,"score_spread":0.2609094284914819,"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."}}