{"id":"W2124586483","doi":"10.1371/journal.pgen.1003349","title":"Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":142,"is_retracted":false,"has_abstract":true,"ca_institutions":"CReATe Fertility Centre; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institutes of Health; Alex's Lemonade Stand Foundation for Childhood Cancer; National Institute of Diabetes and Digestive and Kidney Diseases; Fundação para a Ciência e a Tecnologia; Ministério da Ciência, Tecnologia e Ensino Superior; Damon Runyon Cancer Research Foundation","keywords":"Biology; Genetics; Autosome; Male infertility; Azoospermia; Locus (genetics); Copy-number variation; Population; Human genetics; Infertility; Gene; X chromosome; Pregnancy; Genome; 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":[0.00010992,0.0002461887,0.0001925367,0.00002785832,0.0004421081,0.0001966727,0.0003983426,0.0001680834,0.0001980553],"category_scores_gemma":[0.00004759631,0.0001563791,0.00009506202,0.0001045581,0.0002894414,0.00000991946,0.000301982,0.0001484602,0.00003761263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001392269,"about_ca_system_score_gemma":0.00005642412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008244342,"about_ca_topic_score_gemma":0.000129045,"domain_scores_codex":[0.998552,0.0001122168,0.0003689199,0.0003739279,0.0002929758,0.0002999896],"domain_scores_gemma":[0.9991194,0.00006323572,0.0001431318,0.0004508325,0.0001171055,0.0001063053],"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":[0.000008704359,0.0001160297,0.009237926,0.00002970028,0.0002687428,0.00000866805,0.001175562,0.00004412365,0.9764342,0.00007675961,0.006088153,0.006511423],"study_design_scores_gemma":[0.001053332,0.0004875286,0.03069141,0.0000394723,0.0001740329,0.0001014993,0.002867143,0.001064222,0.9240487,0.001938254,0.03688573,0.0006486433],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928216,0.004033286,0.00002647306,0.002224755,0.00007693269,0.0003673502,0.00003803807,0.00002621124,0.0003853324],"genre_scores_gemma":[0.9953394,0.001143152,0.0004743125,0.001573025,0.000523549,0.00007213042,0.0001010244,0.0000316626,0.0007417753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05238548,"threshold_uncertainty_score":0.6376956,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01735617307859389,"score_gpt":0.2482355979546557,"score_spread":0.2308794248760618,"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."}}