{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002430374,0.0002637867,0.0005436843,0.0002335891,0.0001009362,0.00001073996,0.0002316323,0.0002198765,0.006828663],"category_scores_gemma":[0.00009542589,0.0002306496,0.0004595726,0.0001867134,0.0000811669,0.00003244547,0.0006320416,0.0007457687,0.00007314419],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000130566,"about_ca_system_score_gemma":0.0001465005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000148126,"about_ca_topic_score_gemma":0.00003362044,"domain_scores_codex":[0.998354,0.00004988683,0.0004175967,0.0004342396,0.000508445,0.0002357924],"domain_scores_gemma":[0.9986261,0.0000258949,0.0002460732,0.0008642732,0.0001019807,0.0001356405],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008746815,0.0003108461,0.9473317,0.0008250792,0.0004905542,0.0002906208,0.0005588349,0.00007938095,0.04669796,0.0004008794,0.002257606,0.0006691014],"study_design_scores_gemma":[0.003107754,0.0007660781,0.9419849,0.00040606,0.002119857,0.000356532,0.001531494,0.000359352,0.0345061,0.001477423,0.01255795,0.000826528],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954473,0.0005146496,0.00004089356,0.0001764453,0.0006960229,0.0005330023,0.00004354216,0.000118237,0.002429952],"genre_scores_gemma":[0.9977214,0.00006846374,0.0002177112,0.0000908311,0.0002435352,0.0000579545,0.000440686,0.00004794468,0.001111501],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01219186,"threshold_uncertainty_score":0.9940792,"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."}}