{"id":"W4403063306","doi":"10.1007/s00335-024-10074-z","title":"Comprehensive analysis of chromosomal breakpoints and candidate genes associated with male infertility: insights from cytogenetic studies and expression analyses","year":2024,"lang":"en","type":"article","venue":"Mammalian Genome","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Biology; Human genetics; Breakpoint; Genetics; Infertility; Gene; Cytogenetics; Male infertility; Computational biology; Bioinformatics; Chromosomal translocation; Chromosome; 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":[0.00004602915,0.0002100467,0.0004240912,0.000132193,0.00008268837,0.00005153045,0.00009175457,0.0001115459,0.00006256681],"category_scores_gemma":[0.00002365267,0.0001551221,0.00009114386,0.0002470438,0.0003275351,0.000009428506,0.0001588816,0.00005965806,0.000001596525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000102386,"about_ca_system_score_gemma":0.00003246027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006776224,"about_ca_topic_score_gemma":0.0002538624,"domain_scores_codex":[0.9988073,0.00008860854,0.0003226538,0.0004622582,0.0001563355,0.0001628772],"domain_scores_gemma":[0.9993811,0.0000698975,0.00009406835,0.0002141919,0.0001376443,0.0001031614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001527642,0.00007787509,0.05494497,0.0002146887,0.004764102,0.0000786864,0.001067506,0.000188301,0.9362214,0.00001779015,0.00002309852,0.002248787],"study_design_scores_gemma":[0.0007363218,0.0007898376,0.7847936,0.0001680406,0.001898096,0.00001843254,0.002191373,0.0003373381,0.206909,0.0002463462,0.001457863,0.0004536975],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9603651,0.03912264,0.00005464663,0.00004598498,0.00003621417,0.0001011533,0.0001703101,0.0000136592,0.00009029893],"genre_scores_gemma":[0.9972463,0.001597079,0.0001747294,0.00008566544,0.0000526663,0.00001272174,0.0002870696,0.00001469749,0.0005290474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7298486,"threshold_uncertainty_score":0.6325697,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03289962332340145,"score_gpt":0.3099329674642113,"score_spread":0.2770333441408098,"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."}}