{"id":"W3181457272","doi":"10.1002/humu.24253","title":"Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing","year":2021,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Waterloo","funders":"","keywords":"Vietnamese; Biology; Exome sequencing; Population; Genetics; Exome; Disease; Gene; Medicine; Mutation; Internal medicine; Environmental health","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":[0.00009964372,0.00006588428,0.0001009633,0.00002179259,0.00005627311,0.00001873324,0.00008184531,0.00006347502,0.00004200132],"category_scores_gemma":[0.00009801733,0.00005474276,0.00007673948,0.00006574945,0.00002033344,0.00000374596,0.00003110047,0.00004338309,0.000002297282],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008431934,"about_ca_system_score_gemma":0.00006042486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004446903,"about_ca_topic_score_gemma":0.0005391655,"domain_scores_codex":[0.9991858,0.0001708904,0.0002580358,0.0002057101,0.00009024544,0.00008932632],"domain_scores_gemma":[0.9995736,0.00002202889,0.0001094276,0.0001997686,0.00006619584,0.00002895092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000570416,0.0002890157,0.9352676,0.00003729799,0.00004605999,0.00008833206,0.001374718,0.0009458563,0.05922566,0.00006296572,0.0003489028,0.002256598],"study_design_scores_gemma":[0.0004695566,0.00005374972,0.9943578,0.0000175004,0.00003720748,0.000004801609,0.002027859,0.0002717914,0.001118886,0.001472893,0.00008924724,0.00007871123],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982381,0.001273236,0.0001251611,0.00003668416,0.00006604521,0.00008886458,0.00009271082,0.000003080263,0.00007611733],"genre_scores_gemma":[0.9975898,0.00008179645,0.0002612302,0.0001436852,0.0001757234,0.00001119426,0.001705516,0.000008209116,0.00002289028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05909024,"threshold_uncertainty_score":0.2232345,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01830684915731417,"score_gpt":0.3099608301880861,"score_spread":0.2916539810307719,"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."}}