{"id":"W3188286861","doi":"10.1126/science.aba7408","title":"Population sequencing data reveal a compendium of mutational processes in the human germ line","year":2021,"lang":"en","type":"article","venue":"Science","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute of Mental Health; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Genetics; Biology; Germline; Mutation; Human genome; Computational biology; Genome; Genomics; Compendium; Human genetic variation; Population; 1000 Genomes Project; Gene; Single-nucleotide polymorphism; Genotype; 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":[0.001066194,0.0002443351,0.0003457209,0.0009344434,0.0002717745,0.0005862734,0.0002840404,0.0003140503,0.0007200032],"category_scores_gemma":[0.003275985,0.0001987176,0.0004152202,0.001061768,0.0002407565,0.0002703492,0.0004177695,0.0006089154,0.0003137959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002329348,"about_ca_system_score_gemma":0.0004319116,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001671211,"about_ca_topic_score_gemma":0.004103482,"domain_scores_codex":[0.9994267,0.0001106053,0.00004222542,0.000239632,0.0001475913,0.00003327118],"domain_scores_gemma":[0.9979442,0.0009951225,0.0003199514,0.0003935346,0.0002568008,0.00009047731],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004786752,0.00016735,0.473416,0.0006559602,0.001078219,0.0005525703,0.0008164201,0.03771516,0.2707791,0.008297666,0.01096248,0.1950803],"study_design_scores_gemma":[0.00005238699,0.0002125706,0.8599407,0.00005106654,0.0003078485,0.001345868,0.0001915924,0.07326115,0.02331262,0.01680865,0.02443935,0.00007610503],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.89933,0.001579721,0.07566419,0.0003182835,0.00003336796,0.00004087646,0.02114439,0.00054977,0.001339452],"genre_scores_gemma":[0.9396798,0.0005240193,0.02565023,0.0001262647,0.00002809267,0.00006137016,0.03325778,0.0001081365,0.0005643839],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001671211,"threshold_uncertainty_score":0.005638659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04923492997284745,"score_gpt":0.3394997390268096,"score_spread":0.2902648090539621,"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."}}