{"id":"W2950191394","doi":"10.1371/journal.pone.0213387","title":"A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families","year":2019,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Chronic Lymphocytic Leukemia Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Genopole; Fondation Arthritis","keywords":"Exome sequencing; Genetics; Pedigree chart; Multiplex; Biology; Gene; Genetic association; Genome-wide association study; Exome; Single-nucleotide polymorphism; Genotype; Mutation","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":[0.0003777017,0.00079402,0.000486698,0.001228177,0.0006278399,0.0005115704,0.0002824622,0.0005862592,0.0022273],"category_scores_gemma":[0.001419696,0.0002113656,0.0006305204,0.0009672486,0.0003411004,0.0001545775,0.0004132401,0.0003977874,0.0002499407],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002414164,"about_ca_system_score_gemma":0.000151748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001433897,"about_ca_topic_score_gemma":0.001971479,"domain_scores_codex":[0.9994739,0.0000667073,0.00005348338,0.0002308362,0.0001177973,0.00005725215],"domain_scores_gemma":[0.9994412,0.0002092036,0.0001439696,0.00004334934,0.00004199331,0.0001203444],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002520667,0.0002652036,0.5474984,0.0003152051,0.001124362,0.2185059,0.0024477,0.00173537,0.1805699,0.0007730541,0.002209197,0.04203498],"study_design_scores_gemma":[0.0001415582,0.0006123654,0.7328105,0.0001110794,0.0007751492,0.2350366,0.0004732151,0.00507617,0.01834879,0.0006230206,0.005922248,0.00006932845],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968561,0.0003289492,0.001572118,0.00004596712,0.00001576575,0.00001920804,0.0007848341,0.00003144822,0.0003455857],"genre_scores_gemma":[0.9980076,0.0001221137,0.00093797,0.0000442015,0.00002148546,0.00001055875,0.0005880292,0.00001222428,0.0002557402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0022273,"threshold_uncertainty_score":0.007451057,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03989837371650361,"score_gpt":0.2414359428530986,"score_spread":0.2015375691365949,"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."}}