{"id":"W1573669151","doi":"10.1038/nrg3931","title":"Estimating the mutation load in human genomes","year":2015,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Evolution and Genetic Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":323,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre","funders":"National Human Genome Research Institute","keywords":"Biology; Genome; Genetics; Mutation Accumulation; Allele; Mutation; Human genome; Mutation rate; Genetic load; Dominance (genetics); Genetic variation; Human genetic variation; 1000 Genomes Project; Selection (genetic algorithm); Genomics; Evolutionary biology; Population; Gene; Genotype; Single-nucleotide polymorphism","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001375902,0.0005033737,0.001118083,0.00008296872,0.00009957381,0.00004877115,0.0006858751,0.001129366,0.00001162962],"category_scores_gemma":[0.0002485281,0.0003386757,0.0004293419,0.0003703532,0.00009341762,0.00000180124,0.0002261638,0.0009025247,0.00005235648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001575546,"about_ca_system_score_gemma":0.0005548748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002589803,"about_ca_topic_score_gemma":0.0001166572,"domain_scores_codex":[0.9972707,0.0005149659,0.0009627627,0.000589432,0.0003209583,0.0003411641],"domain_scores_gemma":[0.9981839,0.00002040568,0.0005736871,0.000940648,0.0001811886,0.0001001933],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000001035981,0.00002500092,0.000006609153,0.00283776,0.00003708582,0.000003461372,0.00002597905,0.0002513879,0.0000134341,0.00003525455,0.004959217,0.9918038],"study_design_scores_gemma":[0.0001424058,0.00006631875,0.000005196323,0.001532854,0.0002434187,0.00006554455,0.000004984126,0.000306956,0.000002049269,0.00009362766,0.9971655,0.0003711296],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00002105539,0.9966017,0.0004211726,0.0000220759,0.0004336624,0.001440323,0.0000284207,0.00001054473,0.00102103],"genre_scores_gemma":[0.00001695027,0.9924397,0.004785563,0.0001892504,0.0007554006,0.000148509,0.0008097176,0.00007062835,0.0007842293],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9922063,"threshold_uncertainty_score":0.9999065,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03332629314045946,"score_gpt":0.384552437176136,"score_spread":0.3512261440356765,"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."}}