{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001228604,0.0003726855,0.0004847756,0.0009424252,0.0006059102,0.001242846,0.0007169221,0.001272592,0.004403433],"category_scores_gemma":[0.001517023,0.0001697372,0.0003783061,0.0003651322,0.001903851,0.001329813,0.001045354,0.001374198,0.0005498163],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004484111,"about_ca_system_score_gemma":0.000420064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001988664,"about_ca_topic_score_gemma":0.0003409687,"domain_scores_codex":[0.9993792,0.0001616169,0.00002903758,0.0002004107,0.0001457236,0.00008397032],"domain_scores_gemma":[0.9988353,0.0004256129,0.0002689327,0.0001818616,0.00009219637,0.0001961332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001053038,0.0003514335,0.1224261,0.001166711,0.000510856,0.03609842,0.002998776,0.00262148,0.1420558,0.5495186,0.02024102,0.1209576],"study_design_scores_gemma":[0.0002387424,0.001316903,0.1291203,0.0005052703,0.0002984963,0.1054859,0.001948709,0.007146857,0.0280874,0.5747749,0.1509224,0.0001541571],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7468753,0.05940376,0.09249727,0.04385993,0.002036412,0.0001386773,0.001583222,0.0005953158,0.05301003],"genre_scores_gemma":[0.9767641,0.007743041,0.004431329,0.004075981,0.001153181,0.00006425604,0.0002862773,0.00003930369,0.005442478],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004403433,"threshold_uncertainty_score":0.01473099,"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."}}