{"id":"W4206004774","doi":"10.1093/nargab/lqab122","title":"A comparison on predicting functional impact of genomic variants","year":2022,"lang":"en","type":"article","venue":"NAR Genomics and Bioinformatics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"National Key Research and Development Program of China","keywords":"Single-nucleotide polymorphism; Missense mutation; Genomics; Human genome; Functional genomics; SNP","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":[0.01557363,0.001711442,0.001569307,0.005308238,0.000586858,0.001883337,0.001534521,0.001529415,0.001431418],"category_scores_gemma":[0.0233735,0.0002965961,0.001952807,0.002386928,0.0005091978,0.001520396,0.001356286,0.001319461,0.0006018497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001116663,"about_ca_system_score_gemma":0.00146564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008055055,"about_ca_topic_score_gemma":0.008830499,"domain_scores_codex":[0.9935051,0.002705821,0.0007204809,0.001282339,0.001501336,0.0002849597],"domain_scores_gemma":[0.9711603,0.0237345,0.000738184,0.001632641,0.002172128,0.0005622724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004104268,0.0007913118,0.3325195,0.002019563,0.005334178,0.0006775485,0.0002596207,0.2315205,0.005893688,0.003329105,0.01924325,0.3943075],"study_design_scores_gemma":[0.0003414163,0.00102746,0.08681041,0.0003172361,0.0009494914,0.001040557,0.0002317147,0.8895909,0.006709996,0.004034313,0.008788117,0.0001584499],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8602415,0.03807263,0.07182051,0.002674946,0.0007237916,0.0002844736,0.01057103,0.005167252,0.01044379],"genre_scores_gemma":[0.9193673,0.003949122,0.05324776,0.0006237761,0.0001968822,0.0001412391,0.02038139,0.0003441144,0.001748558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01557363,"threshold_uncertainty_score":0.08236223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01467209410687007,"score_gpt":0.2587007337804651,"score_spread":0.244028639673595,"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."}}