{"id":"W4286817259","doi":"10.1101/2022.07.19.22271581","title":"Diverse Monogenic Subforms of Human Spermatogenic Failure","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Sperm and Testicular Function","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"National Institute of Mental Health; Medical Research Council; National Health and Medical Research Council; Ministério da Ciência, Tecnologia e Ensino Superior; Deutsche Forschungsgemeinschaft; Fundação para a Ciência e a Tecnologia; Innovationsfonden; Wellcome Trust; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Institutes of Health; Eesti Teadusagentuur","keywords":"Biology; Mendelian inheritance; Azoospermia; Genetics; Male infertility; Population; Gene; Infertility; 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":[0.0002027417,0.0002414328,0.0002261843,0.001023085,0.0002569535,0.0003215656,0.000154197,0.0002067291,0.002869068],"category_scores_gemma":[0.0003201762,0.00008683668,0.0002018309,0.0006235556,0.0002855533,0.0001195652,0.0003929223,0.0002056102,0.0004104215],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001402643,"about_ca_system_score_gemma":0.0001470835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005129622,"about_ca_topic_score_gemma":0.0007346656,"domain_scores_codex":[0.9998429,0.00002185531,0.00001663137,0.00006540128,0.00003599945,0.00001718643],"domain_scores_gemma":[0.9997953,0.00004538543,0.00008090296,0.00002532535,0.00002002748,0.00003313693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001287926,0.00007607215,0.4302794,0.0007250575,0.0003837054,0.005213155,0.0006270676,0.001079316,0.480413,0.003085037,0.003172206,0.07365809],"study_design_scores_gemma":[0.00003851395,0.0003555708,0.9244827,0.00008252441,0.0001541504,0.01753403,0.0002359887,0.0008739267,0.0382314,0.002452304,0.01553276,0.0000261463],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822968,0.005910449,0.00448869,0.0001839664,0.00003057423,0.00004538367,0.00413695,0.0001213004,0.002786015],"genre_scores_gemma":[0.9930347,0.001419368,0.00134249,0.0001167976,0.00002044396,0.00001988309,0.002675585,0.00001984238,0.001350955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002869068,"threshold_uncertainty_score":0.009598017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03181315290301504,"score_gpt":0.2841352348486542,"score_spread":0.2523220819456392,"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."}}