{"id":"W2044375096","doi":"10.1002/humu.21247","title":"Deeper understanding of unclassified intronic variants and ESEs","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Citation; Biology; Genetics; Computer science; Library science","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":[0.0009302824,0.0004336975,0.0007323564,0.0008029994,0.0001804704,0.001001861,0.000644214,0.001036506,0.001939061],"category_scores_gemma":[0.000868844,0.0001857305,0.0004129296,0.0003746066,0.0006501414,0.002106366,0.0003499904,0.001080395,0.0003840864],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002939308,"about_ca_system_score_gemma":0.0003142339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005292774,"about_ca_topic_score_gemma":0.0004980934,"domain_scores_codex":[0.9997535,0.00005840983,0.0000361578,0.00007767938,0.00004451733,0.00002968711],"domain_scores_gemma":[0.9994763,0.0002444203,0.00007908203,0.00009875144,0.00005813275,0.00004338709],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001029608,0.000256319,0.06520826,0.0008706626,0.0002972803,0.008861671,0.001472647,0.005586231,0.5474414,0.1403252,0.002404615,0.2262461],"study_design_scores_gemma":[0.000111947,0.0006115737,0.2187154,0.0003896716,0.0006911674,0.05315899,0.001964629,0.02179874,0.1857339,0.3310936,0.1855235,0.0002068461],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8359497,0.06872452,0.07013372,0.006640316,0.0003290385,0.0000204094,0.0007490534,0.0003432358,0.01711002],"genre_scores_gemma":[0.956253,0.01760931,0.01843147,0.001317755,0.000494181,0.00001272745,0.0004906561,0.00008403909,0.00530689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001939061,"threshold_uncertainty_score":0.006486773,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02110904867584095,"score_gpt":0.2633341463611212,"score_spread":0.2422250976852802,"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."}}