{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003256894,0.00003093177,0.00003998647,0.00001873067,0.00006539018,0.00002321847,0.0003169088,0.00001477623,0.000003679973],"category_scores_gemma":[0.0004146975,0.00002570026,0.000006533491,0.0002331419,0.00009394423,0.000006303377,0.0001426101,0.00002608075,3.714027e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001303802,"about_ca_system_score_gemma":0.0005040023,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008792106,"about_ca_topic_score_gemma":0.0007016631,"domain_scores_codex":[0.9994936,0.0000121172,0.0001022896,0.0001845811,0.0001304875,0.00007691855],"domain_scores_gemma":[0.9995415,0.00001891239,0.00004633876,0.000272436,0.0001076726,0.00001316519],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00000355973,0.00003336645,0.016946,0.00003150821,0.000001822884,0.000005827898,0.0002115924,0.0008773305,0.9806458,0.0006590161,0.00009716771,0.0004869779],"study_design_scores_gemma":[0.000489425,0.0001351182,0.3735881,0.00006573012,0.00001410973,0.00007783742,0.0008161525,0.001225688,0.6177299,0.002770985,0.002865855,0.0002210946],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989235,0.0003254458,0.0001775995,0.0001533061,0.00004416257,0.0000432678,0.00004812512,8.537488e-7,0.0002837581],"genre_scores_gemma":[0.9986109,0.00002385744,0.0007446712,0.0001676949,0.00006713923,0.000001989349,0.0003625618,0.00000178002,0.00001941061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3629159,"threshold_uncertainty_score":0.1048026,"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."}}