{"id":"W4411163281","doi":"10.1016/j.cca.2025.120423","title":"Genetic landscape of primary ovarian insufficiency in Bangladeshi women through whole exome sequencing","year":2025,"lang":"en","type":"article","venue":"Clinica Chimica Acta","topic":"Ovarian function and disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Genome Canada","funders":"","keywords":"Exome sequencing; Sanger sequencing; Premature ovarian insufficiency; Exome; Premature ovarian failure; Genetics; Population; Biology; Infertility; Medicine; Internal medicine; Gene; Mutation; 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":[0.0003788194,0.0001662984,0.0005318651,0.0002500282,0.00004632248,0.00001493693,0.0001983916,0.0001912704,0.0005871974],"category_scores_gemma":[0.0005538203,0.000152751,0.0001170141,0.0007793173,0.0001282687,0.00008909636,0.00009851185,0.0003541214,0.00002686501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001707346,"about_ca_system_score_gemma":0.0007697949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002282805,"about_ca_topic_score_gemma":0.00001236315,"domain_scores_codex":[0.9982424,0.00007875275,0.0007474297,0.0003984203,0.0001914912,0.000341456],"domain_scores_gemma":[0.9988903,0.0002322916,0.0001557408,0.0005616809,0.00006302615,0.00009694297],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004144443,0.008607627,0.6922984,0.002303961,0.0006264086,0.0001312574,0.01480284,0.00006681483,0.219732,0.003397792,0.04292889,0.01095959],"study_design_scores_gemma":[0.008365222,0.0007990735,0.9367456,0.0003791246,0.0001096475,0.00001797898,0.002475685,0.0005035605,0.000360216,0.001755848,0.04819413,0.0002938481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8892905,0.0001424229,0.00006115672,0.003278528,0.0003265713,0.0003303652,0.000009221886,0.00006361783,0.1064977],"genre_scores_gemma":[0.9919869,0.0001367477,0.001758204,0.004357519,0.00006934529,0.00002601541,0.00002373515,0.00001910911,0.001622367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2444472,"threshold_uncertainty_score":0.6429399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02621252195701672,"score_gpt":0.2864311265216749,"score_spread":0.2602186045646582,"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."}}