{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001551489,0.0001209233,0.000136742,0.0007526352,0.0001778004,0.0003381038,0.0001208492,0.0001769715,0.002754163],"category_scores_gemma":[0.0005026447,0.00008135966,0.0001387426,0.000453241,0.0001689594,0.0001195453,0.0002183247,0.0001090937,0.0002382919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000130842,"about_ca_system_score_gemma":0.00009705005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001253242,"about_ca_topic_score_gemma":0.001757572,"domain_scores_codex":[0.9998646,0.00001881201,0.00001221487,0.0000542193,0.00002165475,0.00002855718],"domain_scores_gemma":[0.9998272,0.00004756078,0.00006341344,0.00001582526,0.00001828259,0.00002775837],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003269383,0.00004291206,0.9071767,0.00002913066,0.00007159472,0.001112055,0.0002002325,0.0002608726,0.0801765,0.0002333209,0.0002574515,0.01011221],"study_design_scores_gemma":[0.000007730377,0.0001414518,0.9873175,0.00001068244,0.00006093032,0.005195355,0.0002621152,0.0006656278,0.005185257,0.0001776493,0.000970304,0.000005414829],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988464,0.0001110133,0.0001302573,0.00001216938,7.408064e-7,0.000004315667,0.0003020382,0.000008048554,0.0005849568],"genre_scores_gemma":[0.9992728,0.00006974404,0.0001381793,0.00001286616,0.000001829214,0.000003727084,0.0003444812,0.000005245244,0.0001512062],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002754163,"threshold_uncertainty_score":0.009213567,"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."}}