{"id":"W4319299094","doi":"10.1101/2023.02.06.527353","title":"Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Human Genome Research Institute; Canadian Institutes of Health Research; Alnylam Pharmaceuticals; Canada Excellence Research Chairs, Government of Canada; Compute Canada; National Institutes of Health","keywords":"Missense mutation; Mechanism (biology); Variation (astronomy); Genetics; Biology; Computational biology; Mutation; Gene; Physics; Philosophy; Epistemology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005257121,0.0003615056,0.0002874079,0.0003746181,0.0001870526,0.0002178356,0.0001527214,0.0003619386,0.001182318],"category_scores_gemma":[0.000520651,0.0001267848,0.0002574835,0.0003061911,0.0002211895,0.00008711469,0.0001919321,0.0002552222,0.0003228228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001974283,"about_ca_system_score_gemma":0.0001368966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001205758,"about_ca_topic_score_gemma":0.001872958,"domain_scores_codex":[0.9998171,0.00004137335,0.00001624057,0.00005340178,0.00004986255,0.00002214043],"domain_scores_gemma":[0.9997783,0.0001146576,0.00002761162,0.00002424147,0.00003128153,0.00002385037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004054479,0.00007589396,0.03759576,0.00006326983,0.0000921905,0.001213883,0.0001267431,0.003521918,0.9460303,0.0004354127,0.0003118429,0.01012739],"study_design_scores_gemma":[0.00006988841,0.0008613385,0.1311082,0.00002461826,0.0001781003,0.004886039,0.0001759106,0.03653037,0.8212847,0.0006898179,0.004152673,0.00003831246],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933349,0.0002430334,0.004913406,0.00005161271,0.00001006776,0.00003078012,0.0006663247,0.0001299998,0.0006198752],"genre_scores_gemma":[0.9950948,0.00008075045,0.003988234,0.00004475057,0.000003690623,0.00001067833,0.000459371,0.0000350897,0.0002826673],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001205758,"threshold_uncertainty_score":0.003955245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01999856804379298,"score_gpt":0.2300485718566522,"score_spread":0.2100500038128592,"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."}}