{"id":"W4385650152","doi":"10.1101/2023.08.03.23293616","title":"Evaluating the utility of REVEL and CADD for interpreting variants in amyotrophic lateral sclerosis genes","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Montreal Neurological Institute and Hospital; Fondation Brain Canada; ALS Society of Canada; Michael J. Fox Foundation for Parkinson's Research","keywords":"Amyotrophic lateral sclerosis; In silico; Gene; Genetics; Computational biology; Disease; Biology; Pathogenicity; Medicine; 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":[0.01702895,0.000877365,0.0008480307,0.005174575,0.0006210551,0.002567382,0.001290532,0.001152081,0.002806449],"category_scores_gemma":[0.04905269,0.0003007998,0.001438655,0.002285521,0.0006983684,0.001225085,0.0023835,0.001247977,0.0009960277],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006451476,"about_ca_system_score_gemma":0.0007545969,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00238009,"about_ca_topic_score_gemma":0.005344577,"domain_scores_codex":[0.991496,0.004772338,0.0007759547,0.001482445,0.001142338,0.000330936],"domain_scores_gemma":[0.9447136,0.04499861,0.003864106,0.002144878,0.00298944,0.00128941],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001479753,0.0001511822,0.9346228,0.0006872701,0.0009986332,0.0004927227,0.0004134211,0.007264913,0.003729188,0.001089268,0.006805233,0.0422656],"study_design_scores_gemma":[0.0006773756,0.001487406,0.6232811,0.0008961685,0.001617474,0.003952554,0.002476712,0.3082085,0.01682965,0.009719267,0.03047624,0.0003775168],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9354928,0.003441961,0.03046888,0.002294326,0.0001687272,0.0001669781,0.02251011,0.001510346,0.003945946],"genre_scores_gemma":[0.9644375,0.0001997436,0.02665024,0.0005309522,0.00005263384,0.00007535223,0.007514427,0.000111076,0.0004280295],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01702895,"threshold_uncertainty_score":0.0900588,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2785073964691778,"score_gpt":0.4252044352148482,"score_spread":0.1466970387456704,"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."}}