{"id":"W2072765451","doi":"10.1093/nar/gkm223","title":"Update of the G2D tool for prioritization of gene candidates to inherited diseases","year":2007,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Ontario Genomics","funders":"Canadian Institutes of Health Research","keywords":"OMIM : Online Mendelian Inheritance in Man; Biology; Gene; Genetics; Genome; Computational biology; Candidate gene; Mendelian inheritance; Homology (biology); Identifier; Prioritization; Identification (biology); Phenotype; Computer science","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":[0.0003803815,0.00006844345,0.00009790865,0.0000686663,0.00009264186,0.00001232706,0.0002900343,0.00006749586,0.00001570278],"category_scores_gemma":[0.0003873212,0.00005214526,0.00008083025,0.0002307927,0.0001201888,0.000002443147,0.0001612196,0.00004336388,0.000002220157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001483608,"about_ca_system_score_gemma":0.0001316108,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002383672,"about_ca_topic_score_gemma":0.00002417645,"domain_scores_codex":[0.9991033,0.00004508522,0.0001942253,0.0001887774,0.0002241042,0.0002445246],"domain_scores_gemma":[0.999065,0.00003195895,0.0000451231,0.0003413552,0.0004356131,0.00008089497],"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":[0.0003867415,0.00009397852,0.0241366,0.00006249505,0.00003244464,8.46392e-7,0.00005063632,0.00002459401,0.9687975,0.0002003778,0.002827154,0.003386644],"study_design_scores_gemma":[0.0004940229,0.0002967975,0.1863288,0.00002309897,0.00001627577,0.000001867162,0.0001332733,0.00005112829,0.788781,0.0002346606,0.02353035,0.0001087539],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973836,0.0004564885,0.001035357,0.0001520627,0.00005306852,0.000474863,0.0003314401,0.000003017032,0.0001101326],"genre_scores_gemma":[0.9985689,0.00007634232,0.0007988288,0.0000776499,0.0001021874,0.00001859663,0.0001281124,0.00001746242,0.0002119571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1800165,"threshold_uncertainty_score":0.2126422,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01724745169031186,"score_gpt":0.3224831681234431,"score_spread":0.3052357164331312,"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."}}