{"id":"W2883674070","doi":"10.1172/jci.insight.121086","title":"Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes","year":2018,"lang":"en","type":"article","venue":"JCI Insight","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":111,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Children's Hospital Research Institute of Manitoba; BC Children's Hospital; Manitoba Health; University of British Columbia","funders":"National Cancer Institute; National Heart, Lung, and Blood Institute; V Foundation for Cancer Research; Burroughs Wellcome Fund; American Cancer Society","keywords":"Monosomy; Chromosome 7 (human); Germline; Myeloid leukemia; Germline mutation; Myeloid; Mutation; Somatic evolution in cancer; Bone marrow; Leukemia; Cancer research; Medicine; Biology; Genetics; Cancer; Immunology; Chromosome; Gene; Karyotype","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":[0.00009324467,0.0001709204,0.0003573379,0.0001782159,0.0002496611,0.00002645225,0.00005218397,0.0001361196,0.00006579575],"category_scores_gemma":[0.0007345183,0.0001173241,0.00003036704,0.0002904749,0.0005500543,0.00009783867,0.00009406605,0.000207356,0.00004157261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002459916,"about_ca_system_score_gemma":0.0001343572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001127006,"about_ca_topic_score_gemma":0.0002705652,"domain_scores_codex":[0.9988539,0.0000685438,0.0001884714,0.0003357005,0.0002847529,0.0002686832],"domain_scores_gemma":[0.9987717,0.0002002117,0.0001143147,0.0002291793,0.0005051807,0.0001793808],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002093936,0.0001709641,0.9903013,0.00007669903,0.0003010117,0.0005825173,0.001949182,0.00000233827,0.002617043,0.0003142168,0.002592233,0.0008830962],"study_design_scores_gemma":[0.002619233,0.0005480972,0.993167,0.0001027066,0.0001726547,0.0002158375,0.0008006758,0.0009337715,0.0003790361,0.0004317519,0.0004738218,0.0001554037],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959884,0.000545649,0.0003807399,0.001936204,0.00004948448,0.0004388943,0.00001558679,0.00008019533,0.0005648201],"genre_scores_gemma":[0.9962521,0.00006795084,0.002082347,0.0006241118,0.00008125805,0.0000216657,0.00003521891,0.00002210802,0.0008132724],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002865705,"threshold_uncertainty_score":0.4784337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0285660282620121,"score_gpt":0.2937493298865189,"score_spread":0.2651833016245068,"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."}}