{"id":"W4225114510","doi":"10.1186/s12920-022-01249-1","title":"Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders","year":2022,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; McGill Genome Centre; Vitalité Health Network; Atlantic Cancer Research Institute; Dr. Georges-L.-Dumont University Hospital Centre; McGill University; Université de Moncton","funders":"Fondation de la recherche en santé du Nouveau-Brunswick; Université de Sherbrooke","keywords":"Human genetics; Genetics; Biology; Carrier signal; Computational biology; Gene; Computer science; Telecommunications","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0008855597,0.0002762202,0.0005555603,0.0002486879,0.0002556304,0.00002355112,0.000517578,0.0001888092,0.001204199],"category_scores_gemma":[0.003784967,0.0002830786,0.0002079022,0.0004605518,0.0002177043,0.00006879352,0.00031386,0.0008233524,0.00001035621],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004285833,"about_ca_system_score_gemma":0.0090212,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005231712,"about_ca_topic_score_gemma":0.01973919,"domain_scores_codex":[0.9962529,0.0002273068,0.0007031417,0.0007018918,0.001145233,0.0009695607],"domain_scores_gemma":[0.9971766,0.000939044,0.0001207881,0.0005382207,0.00005413602,0.001171251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003365958,0.0005853957,0.809634,0.0008325645,0.0002940995,0.0005542322,0.002420358,0.005485639,0.02278434,0.001486328,0.007594837,0.1449622],"study_design_scores_gemma":[0.02300268,0.001829055,0.8455848,0.0002824498,0.0002214772,0.0003660319,0.00185085,0.04315217,0.0002077455,0.004799187,0.07760803,0.001095509],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.912995,0.004086235,0.07664981,0.002325884,0.0006564769,0.00247927,0.0005807931,0.00008281334,0.000143749],"genre_scores_gemma":[0.8334337,0.0003683912,0.1618552,0.001081264,0.0008500243,0.0002754312,0.000364576,0.0001493432,0.00162204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1438667,"threshold_uncertainty_score":0.9999622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02184030306118672,"score_gpt":0.2874153587553388,"score_spread":0.2655750556941521,"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."}}