{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001538029,0.0003722769,0.0002187527,0.0005851756,0.0003395123,0.0001738825,0.0001495821,0.0002238217,0.001594396],"category_scores_gemma":[0.0005243794,0.0001020018,0.0001550817,0.0005032631,0.0004013884,0.0001216319,0.0005247636,0.0002440107,0.0001688444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001706055,"about_ca_system_score_gemma":0.0001317796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003975931,"about_ca_topic_score_gemma":0.0007755439,"domain_scores_codex":[0.9997838,0.00003441935,0.00002368181,0.00006328617,0.00006381977,0.00003097061],"domain_scores_gemma":[0.9996738,0.0000694239,0.0001664547,0.00001808348,0.00001999551,0.00005220319],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002969333,0.00007169497,0.7059206,0.00008004728,0.0001338414,0.04744667,0.0004102535,0.0005401219,0.1998217,0.0007208988,0.000659067,0.04389814],"study_design_scores_gemma":[0.00002736904,0.0002648003,0.7037253,0.00003504552,0.00009327165,0.2644696,0.000337703,0.0007087033,0.02532678,0.0005573221,0.004434533,0.00001942859],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997766,0.0004195082,0.0006118836,0.00006332456,0.000003237818,0.000006740731,0.0001954861,0.00002433396,0.00090944],"genre_scores_gemma":[0.9989032,0.000191556,0.0004845064,0.00002339399,0.000006554468,0.000003060172,0.0001818278,0.000006738953,0.0001991696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001594396,"threshold_uncertainty_score":0.005333781,"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."}}