{"id":"W4391262115","doi":"10.1007/s10815-024-03031-x","title":"A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility","year":2024,"lang":"en","type":"article","venue":"Journal of Assisted Reproduction and Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Ottawa Fertility Centre; McGill University Health Centre","funders":"Deutsche Forschungsgemeinschaft; McGill University; Faculty of Medicine, McGill University; Génome Québec; Canadian Institutes of Health Research; Mitacs; McGill University Health Centre","keywords":"Biology; Genetics; Sanger sequencing; Exome sequencing; Infertility; Male infertility; Human genetics; Gene; Meiosis; Copy-number variation; Exome; DNA sequencing; Mutation; Genome; Pregnancy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003708086,0.001373041,0.0006000575,0.001498309,0.001282076,0.0007290092,0.0009430732,0.003071517,0.002943927],"category_scores_gemma":[0.003498583,0.0004937149,0.0008575786,0.0006068074,0.001296588,0.0003888506,0.0009292066,0.001245429,0.0005396107],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003004788,"about_ca_system_score_gemma":0.0003172534,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001423485,"about_ca_topic_score_gemma":0.0007833585,"domain_scores_codex":[0.9994755,0.00007125116,0.00004994044,0.0001783093,0.00008730275,0.000137667],"domain_scores_gemma":[0.9984809,0.0007852344,0.000261627,0.0001042043,0.00007001872,0.0002981222],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001964474,0.00005967666,0.02701034,0.00003659261,0.00002710521,0.9620692,0.0008365366,0.00006784032,0.006634864,0.0003512946,0.0002580702,0.00245213],"study_design_scores_gemma":[0.00003171668,0.0002140354,0.02510501,0.00002298939,0.00006703665,0.9705092,0.0003231383,0.0002554955,0.00211062,0.0003538234,0.0009861093,0.00002084459],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925895,0.001080512,0.001353675,0.001094492,0.0001810359,0.00005203304,0.0001713301,0.00005231805,0.003425204],"genre_scores_gemma":[0.9979149,0.0002351239,0.0004216446,0.0002711015,0.0001196113,0.00001046378,0.00005272118,0.00001626134,0.0009581712],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003071517,"threshold_uncertainty_score":0.009848416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02564873891537436,"score_gpt":0.2970850412125317,"score_spread":0.2714363022971574,"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."}}