{"id":"W4229378970","doi":"10.1111/cge.14148","title":"Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database","year":2022,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"York University; University of Toronto","funders":"","keywords":"Exome; Genome; Exome sequencing; Biology; Genetics; Carrier signal; Genomics; Population; Allele frequency; Gene; Mutation; Allele; Medicine; Computer science","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":[0.01917518,0.000512451,0.001602389,0.004160132,0.0004904159,0.003002794,0.001481602,0.0008761587,0.001371679],"category_scores_gemma":[0.0465217,0.0003122304,0.0007798531,0.005175594,0.0008361226,0.002786249,0.002098835,0.001670735,0.0003092587],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00070128,"about_ca_system_score_gemma":0.0008713856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0107823,"about_ca_topic_score_gemma":0.01044346,"domain_scores_codex":[0.9930502,0.003066972,0.000994952,0.001861079,0.0008570588,0.0001696688],"domain_scores_gemma":[0.9650617,0.02227103,0.002160675,0.005953453,0.003510096,0.001043021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006521935,0.00007911031,0.4911051,0.001162167,0.001450713,0.001052298,0.001836507,0.00259745,0.002592974,0.006806799,0.02650194,0.4641627],"study_design_scores_gemma":[0.0002085799,0.0003249106,0.7704245,0.002870447,0.002109608,0.005616992,0.002965405,0.01627746,0.003548851,0.06866644,0.1265778,0.0004090485],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7088085,0.1158344,0.07667782,0.04432018,0.0009279645,0.0001812363,0.04023499,0.001092228,0.01192274],"genre_scores_gemma":[0.8665475,0.03560554,0.0677747,0.004748111,0.0009378917,0.0001615478,0.02311551,0.0004117265,0.000697513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01917518,"threshold_uncertainty_score":0.1014092,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.190143030254515,"score_gpt":0.449523590819801,"score_spread":0.259380560565286,"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."}}