{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002921932,0.0003184978,0.0003692686,0.0008220052,0.0003232038,0.0002572855,0.0001718281,0.0002323044,0.001728597],"category_scores_gemma":[0.0008847172,0.0001476733,0.0001909391,0.0004800123,0.0004437369,0.00014526,0.0002997335,0.0002205414,0.0001775254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001588616,"about_ca_system_score_gemma":0.0001977105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009713234,"about_ca_topic_score_gemma":0.001418699,"domain_scores_codex":[0.9997655,0.00004514881,0.00001898006,0.0000976317,0.00005280178,0.00002004603],"domain_scores_gemma":[0.9995108,0.000151526,0.0001760368,0.00004740014,0.00004219205,0.00007210851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005851591,0.00005215397,0.6971643,0.0002934734,0.0003009402,0.004019675,0.0003282672,0.0005338346,0.2600996,0.001394598,0.0008414608,0.03438655],"study_design_scores_gemma":[0.00005027523,0.0008152304,0.9474835,0.00003923599,0.0001495513,0.02471702,0.000158805,0.0009408925,0.02141588,0.0009185903,0.003292164,0.00001893207],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943385,0.002535903,0.0017091,0.00007473275,0.000009999054,0.00001746726,0.0003890279,0.00006467543,0.0008607074],"genre_scores_gemma":[0.9989579,0.0003337349,0.0003320627,0.00002793494,0.000008317817,0.000004640464,0.0001575301,0.000003529615,0.0001743463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001728597,"threshold_uncertainty_score":0.005782723,"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."}}