{"id":"W3008110097","doi":"10.1038/s41467-020-14829-5","title":"The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants","year":2020,"lang":"en","type":"article","venue":"Nature Communications","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":116,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Foothills Medical Centre; University of British Columbia","funders":"Medical Research Council; Blood Cancer UK; Cancer Research UK; European Hematology Association","keywords":"Myeloid leukemia; Germline; Myeloid; Genetics; Exome sequencing; Myelodysplastic syndromes; Biology; Disease; Etiology; Gene; Computational biology; Bioinformatics; Cancer research; Medicine; Bone marrow; Immunology; Mutation; Internal medicine","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":[0.0003301426,0.0002662866,0.0002220834,0.0009029107,0.0004116071,0.0003174846,0.0001316832,0.0002101312,0.001925179],"category_scores_gemma":[0.001287159,0.0001074879,0.0001580959,0.0005967034,0.0003536186,0.0001657944,0.0004396344,0.0001583063,0.0002123003],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001225781,"about_ca_system_score_gemma":0.0001411717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006481107,"about_ca_topic_score_gemma":0.001053625,"domain_scores_codex":[0.9997078,0.00006272164,0.00003242827,0.00008887802,0.0000702027,0.00003796793],"domain_scores_gemma":[0.9996463,0.0001548341,0.0001043126,0.00003298562,0.00002771785,0.00003387128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002826729,0.00002384012,0.9206713,0.00003265695,0.00007732802,0.01687101,0.0005066391,0.000840949,0.03350372,0.0008064568,0.0005118277,0.02587166],"study_design_scores_gemma":[0.00002292,0.0001253978,0.8897482,0.00002913138,0.0001020684,0.09595474,0.0006914192,0.001523104,0.006242638,0.001979364,0.003561725,0.00001935838],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984813,0.0002727964,0.0004550408,0.00005227884,0.000002312397,0.00000391274,0.0001566342,0.00001004224,0.0005657477],"genre_scores_gemma":[0.9991637,0.0001683981,0.0003997886,0.00001933033,0.000007992527,0.00000223243,0.0001478663,0.000004065427,0.00008665201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001925179,"threshold_uncertainty_score":0.006440341,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04320201286713752,"score_gpt":0.3362698502653392,"score_spread":0.2930678373982017,"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."}}