{"id":"W3107708709","doi":"10.1101/2020.11.29.402768","title":"Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institutes of Health; National Human Genome Research Institute; University of Toronto","keywords":"RYR1; Malignant hyperthermia; Pathogenicity; Computational biology; Bioinformatics; Medicine; Biology; Genetics; Pathology","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":[0.1235602,0.00142477,0.001226026,0.007585654,0.002473143,0.00328329,0.00466964,0.00388814,0.00673943],"category_scores_gemma":[0.2331784,0.0007384229,0.002415834,0.00233756,0.001533872,0.002039874,0.004056135,0.003243585,0.003633364],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002211893,"about_ca_system_score_gemma":0.009308464,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006302029,"about_ca_topic_score_gemma":0.009763529,"domain_scores_codex":[0.9361748,0.03734389,0.01248149,0.003416557,0.008808535,0.001774775],"domain_scores_gemma":[0.7410573,0.113218,0.01363411,0.01758089,0.1080258,0.006484088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001497852,0.0003875089,0.05804712,0.004386088,0.0006061784,0.00245745,0.005718464,0.008326686,0.02495177,0.009749673,0.4191584,0.4647129],"study_design_scores_gemma":[0.001245599,0.0008919573,0.08089564,0.01767906,0.002523303,0.005135374,0.005324066,0.06211393,0.0428847,0.05020103,0.7300221,0.001083346],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"other","genre_scores_codex":[0.1039329,0.01230398,0.6302328,0.1364693,0.005858655,0.01766382,0.009916049,0.01298167,0.07064077],"genre_scores_gemma":[0.2043695,0.001791023,0.7619892,0.01509029,0.001380757,0.003844455,0.004912399,0.001124677,0.005497629],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.1235602,"threshold_uncertainty_score":0.6534566,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03596584929823268,"score_gpt":0.2602194019735241,"score_spread":0.2242535526752914,"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."}}