{"id":"W1994139728","doi":"10.1186/s12920-014-0064-y","title":"FLAGS, frequently mutated genes in public exomes","year":2014,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":176,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's Health Research Institute; BC Children's Hospital; Genome British Columbia; Child and Family Research Institute; Canadian MPS Society for Mucopolysaccharide and Related Diseases; University of British Columbia","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Genome British Columbia; Children's Hospital Foundation; Genome Canada","keywords":"Exome sequencing; Biology; Genetics; OMIM : Online Mendelian Inheritance in Man; Exome; Human genetics; Mendelian inheritance; dbSNP; Gene; Computational biology; Mutation; Bioinformatics; Phenotype; Genotype; Single-nucleotide polymorphism","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":[0.001606471,0.0006482144,0.0006320468,0.004214363,0.0007337893,0.001418565,0.0006860626,0.0009886472,0.00853122],"category_scores_gemma":[0.006247857,0.0002629188,0.001046384,0.003713509,0.0004039049,0.0007132812,0.001021455,0.0007076481,0.002664214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005608153,"about_ca_system_score_gemma":0.0007472026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001066086,"about_ca_topic_score_gemma":0.001710055,"domain_scores_codex":[0.9989437,0.0001593965,0.0001396087,0.0003712203,0.00026576,0.0001203509],"domain_scores_gemma":[0.9975392,0.001326589,0.0004725255,0.0003686404,0.0001662588,0.0001268229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006557015,0.0004440771,0.293456,0.008593811,0.002519698,0.00965583,0.0009720826,0.03124703,0.1451028,0.02337072,0.2080988,0.2699823],"study_design_scores_gemma":[0.0006628971,0.0005722653,0.4061634,0.001116431,0.00122486,0.02057562,0.0006978773,0.1119469,0.05567192,0.06532593,0.3356973,0.0003445312],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3403602,0.005287413,0.08674192,0.001179229,0.0005160077,0.0004398621,0.5438778,0.01352806,0.008069494],"genre_scores_gemma":[0.5301801,0.001613429,0.1160119,0.0006565863,0.0001839716,0.0007662314,0.3469937,0.001578907,0.002015118],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00853122,"threshold_uncertainty_score":0.02853978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01437084689340628,"score_gpt":0.2386093820340178,"score_spread":0.2242385351406115,"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."}}