{"id":"W4226306349","doi":"10.1093/humrep/deac100","title":"Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management","year":2022,"lang":"en","type":"article","venue":"Human Reproduction","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":21,"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; Eesti Teadusagentuur; National Institutes of Health; Ministério da Ciência, Tecnologia e Ensino Superior; Ministério da Ciência, Tecnologia e Inovação; National Health and Medical Research Council","keywords":"Azoospermia; Exome sequencing; Medical genetics; Exome; Medicine; Obstructive azoospermia; Infertility; Retrospective cohort study; Cohort; Bioinformatics; Pediatrics; Gynecology; Genetics; Internal medicine; Biology; Mutation; Pregnancy; Gene","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":[0.001677385,0.0002663788,0.0004858783,0.001904919,0.0003426338,0.0006920159,0.0003605854,0.0004274664,0.001836105],"category_scores_gemma":[0.005785883,0.0001434508,0.0003688568,0.001211705,0.0002828435,0.0003125955,0.0006199843,0.000249118,0.0003992616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001816171,"about_ca_system_score_gemma":0.0001975687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000731466,"about_ca_topic_score_gemma":0.001241075,"domain_scores_codex":[0.9988688,0.0002877206,0.0002228691,0.0003281705,0.0001941137,0.00009834463],"domain_scores_gemma":[0.9967178,0.00163848,0.0007475254,0.0003094976,0.0003809635,0.0002058661],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004967987,0.00002934186,0.9781575,0.0001187286,0.00008310147,0.002004734,0.000234976,0.0001504724,0.003232079,0.0000525761,0.0005311588,0.01490862],"study_design_scores_gemma":[0.00001766576,0.00009304084,0.9935974,0.0000460212,0.0001046542,0.003365556,0.0002102374,0.0007507773,0.0008590613,0.00009889875,0.000849121,0.000007587623],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997198,0.0007370132,0.0004910299,0.00004874036,0.00001027934,0.00002067138,0.001028466,0.00001357297,0.0004522814],"genre_scores_gemma":[0.9968948,0.0003107476,0.0006310009,0.00004049526,0.00002386658,0.00001407824,0.001953194,0.00001006746,0.000121671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001904919,"threshold_uncertainty_score":0.008870959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02009994747062083,"score_gpt":0.2521053842088899,"score_spread":0.2320054367382691,"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."}}