{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001459737,0.00007944905,0.0001498262,0.0001265726,0.0004428006,0.000004712754,0.0004247571,0.00009289752,0.0006933802],"category_scores_gemma":[0.00005480618,0.00007413056,0.0001379362,0.0003913481,0.00008557689,0.00004734935,0.0004370298,0.0008700903,0.0000175527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009005794,"about_ca_system_score_gemma":0.00006357618,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003594713,"about_ca_topic_score_gemma":0.0001031951,"domain_scores_codex":[0.9992956,0.00006711834,0.0001852973,0.0001117582,0.0002339605,0.0001062764],"domain_scores_gemma":[0.9983004,0.00005549853,0.0000935483,0.001385354,0.0001102773,0.00005490212],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001657106,0.002681745,0.4872837,0.0001200384,0.0007362936,0.00003323479,0.002350522,0.00006249431,0.3155156,0.1114015,0.07374565,0.005903448],"study_design_scores_gemma":[0.005168243,0.001072826,0.4931614,0.00007524612,0.001340349,0.0009997189,0.008647139,0.001175851,0.0175243,0.001814371,0.4683764,0.0006441685],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844872,0.004836735,0.00002247009,0.002995414,0.0001337549,0.000408885,0.00005537361,0.0001068137,0.006953353],"genre_scores_gemma":[0.997366,0.00005850512,0.001351778,0.0003536572,0.00002994379,0.00004589491,0.000464563,0.00001417337,0.0003154996],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3946308,"threshold_uncertainty_score":0.7592027,"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."}}