{"id":"W4206457317","doi":"10.1038/s41467-021-27132-8","title":"A de novo paradigm for male infertility","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"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; National Institute of Mental Health; National Health and Medical Research Council; Biotechnology and Biological Sciences Research Council; Radboud Universitair Medisch Centrum; Monash University; Westfälische Wilhelms-Universität Münster; Deutsche Forschungsgemeinschaft; Directorate for Biological Sciences; National Institutes of Health; Newcastle University; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Medical Research Council; Wellcome","keywords":"Missense mutation; Infertility; Genetics; Male infertility; Biology; Gene; Exome sequencing; Phenotype; Loss function; Mutation; Azoospermia; Pregnancy","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":[0.0001933405,0.00006548782,0.00006897339,0.0000170758,0.0004140635,0.00001687888,0.000623478,0.00009869131,0.0001289532],"category_scores_gemma":[0.0001061899,0.00006888223,0.00008677674,0.00005772735,0.00008115688,0.000001996869,0.0003906098,0.0002542563,0.000002384503],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001758668,"about_ca_system_score_gemma":0.00008041585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003332479,"about_ca_topic_score_gemma":0.00004604039,"domain_scores_codex":[0.9994361,0.00008133526,0.00014142,0.0001363147,0.00007320478,0.0001316524],"domain_scores_gemma":[0.9990728,0.00005819618,0.00004763544,0.0007220299,0.00005146655,0.00004780829],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001292905,0.005902308,0.1821211,0.0001938099,0.0006737486,0.00001134076,0.001906224,0.0008634165,0.1606693,0.4116344,0.1844163,0.05031505],"study_design_scores_gemma":[0.0004424542,0.0002450298,0.01302487,0.000001554732,0.00001598151,0.00004821906,0.0002993759,0.0001758856,0.00284441,0.002290576,0.9804785,0.000133157],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9544554,0.009821578,0.001397513,0.01293784,0.0002573409,0.0006050729,0.0003724362,0.00004525107,0.02010762],"genre_scores_gemma":[0.9915796,0.0001204688,0.002541337,0.002473906,0.00005582528,0.0002992499,0.0003525177,0.000008498383,0.002568578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7960622,"threshold_uncertainty_score":0.3184684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02080490005537871,"score_gpt":0.3156858603369158,"score_spread":0.294880960281537,"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."}}