{"id":"W4312220023","doi":"10.1038/s41467-022-35661-z","title":"Diverse monogenic subforms of human spermatogenic failure","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Sperm and Testicular Function","field":"Medicine","cited_by":77,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Fundação para a Ciência e a Tecnologia; Medical Research Council; Novo Nordisk Fonden; National Health and Medical Research Council; National Institute of Mental Health; Ministério da Ciência, Tecnologia e Ensino Superior; Innovationsfonden; National Institutes of Health; U.S. Department of Health and Human Services; Eesti Teadusagentuur; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Deutsche Forschungsgemeinschaft","keywords":"Biology; Mendelian inheritance; Azoospermia; Genetics; Male infertility; Gene; Infertility; Computational biology","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":[0.0002430745,0.0002330445,0.0002327589,0.001346081,0.0003061426,0.0003393201,0.0001766493,0.0001701081,0.001966004],"category_scores_gemma":[0.0005090327,0.00009267795,0.0002128506,0.0008964485,0.0003715011,0.0001510206,0.0004557282,0.0001829928,0.0002626963],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001552313,"about_ca_system_score_gemma":0.0002149632,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007159253,"about_ca_topic_score_gemma":0.00113514,"domain_scores_codex":[0.9997997,0.00002970723,0.00002424756,0.00007106149,0.00005237673,0.00002308664],"domain_scores_gemma":[0.9996932,0.00006684511,0.0001171342,0.00004497751,0.00002814135,0.00004975776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008087329,0.00004813453,0.6614658,0.0003896658,0.0002821824,0.003707495,0.0007710285,0.0006200436,0.2684522,0.002439343,0.001128968,0.05988647],"study_design_scores_gemma":[0.0000128009,0.0001963872,0.9727853,0.00002961676,0.00009203963,0.0100452,0.000202356,0.0003559817,0.01052843,0.001683271,0.00405699,0.00001157855],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895703,0.004069177,0.002856707,0.000106985,0.00001391562,0.00003620337,0.001188676,0.0000614462,0.002096592],"genre_scores_gemma":[0.99581,0.00129377,0.0009486845,0.00007357038,0.00001862776,0.00001705376,0.001102321,0.00001313582,0.0007228349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001966004,"threshold_uncertainty_score":0.006576896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02671359456488131,"score_gpt":0.302688756374956,"score_spread":0.2759751618100747,"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."}}