{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004179067,0.0001613376,0.0001835288,0.00006816418,0.00005131358,0.00003517577,0.0003784854,0.000237964,0.0001266647],"category_scores_gemma":[0.0005843949,0.000147657,0.00009957655,0.00008714954,0.0001107531,0.000002657009,0.0001695511,0.00009722559,0.00005117228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002638099,"about_ca_system_score_gemma":0.0005271455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000334988,"about_ca_topic_score_gemma":0.0005681608,"domain_scores_codex":[0.9986456,0.0001148766,0.0003026104,0.0003794747,0.0001973951,0.0003600302],"domain_scores_gemma":[0.9991423,0.00004102429,0.00006295223,0.0003520923,0.00004715137,0.000354428],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004918124,0.001512281,0.2340401,0.0004538715,0.0003418023,0.000227318,0.0003221126,0.001047664,0.5830117,0.008721547,0.009483488,0.1603463],"study_design_scores_gemma":[0.005989485,0.0005676995,0.05233234,0.00007185367,0.00006078006,0.0002260791,0.0004303649,0.008903209,0.04750372,0.002949967,0.8793387,0.001625816],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931836,0.001729254,0.003044185,0.0002461426,0.0002645302,0.0001264823,0.00001654843,0.00001614283,0.001373108],"genre_scores_gemma":[0.9960364,0.0009377044,0.001182911,0.0008140461,0.000452739,0.00002067216,0.0002963722,0.00003046676,0.0002286937],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8698552,"threshold_uncertainty_score":0.6021277,"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."}}