{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000324823,0.0002220659,0.0002267604,0.0007608377,0.0002800168,0.0004801011,0.0001309073,0.0001634256,0.001269161],"category_scores_gemma":[0.0005397021,0.00009959754,0.0002054178,0.0007708347,0.0001535472,0.0001338009,0.0003634399,0.000193347,0.000101976],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000235372,"about_ca_system_score_gemma":0.000281627,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005468154,"about_ca_topic_score_gemma":0.01087821,"domain_scores_codex":[0.999844,0.00002977594,0.00001635402,0.00006383518,0.00002131215,0.00002470005],"domain_scores_gemma":[0.9998043,0.00005793711,0.00005469777,0.000014863,0.00003224883,0.00003594406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002856049,0.00004844453,0.9053619,0.0001506368,0.0003555851,0.004925956,0.00117616,0.0008288309,0.05467064,0.0003536568,0.001024212,0.0308184],"study_design_scores_gemma":[0.00001262165,0.00007098464,0.9895532,0.00004797439,0.0001156393,0.003353712,0.0007634618,0.0009132088,0.001650031,0.0003151293,0.003192442,0.00001157156],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974752,0.0004933982,0.0005417132,0.00008887121,0.000003727041,0.00001136703,0.000992703,0.000005389281,0.000387616],"genre_scores_gemma":[0.9969507,0.0005758759,0.0005551814,0.00006389147,0.000005597932,0.00001170266,0.001505469,0.000005508496,0.0003259881],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005468154,"threshold_uncertainty_score":0.01087266,"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."}}