{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005430679,0.003266058,0.002543964,0.01009877,0.001114699,0.004995753,0.005352128,0.002475603,0.02623976],"category_scores_gemma":[0.01938083,0.002050752,0.002258346,0.00423697,0.000566065,0.002203526,0.004134736,0.002967252,0.01700754],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009212642,"about_ca_system_score_gemma":0.002216727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004808458,"about_ca_topic_score_gemma":0.007887326,"domain_scores_codex":[0.9974282,0.0004881486,0.0003571447,0.000402314,0.001104922,0.0002190966],"domain_scores_gemma":[0.9866685,0.007387226,0.0005512354,0.001384738,0.002638069,0.001370216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.00113992,0.0004102172,0.007053982,0.001062252,0.0004020802,0.001624111,0.0003192887,0.002262454,0.006187427,0.002601262,0.5975356,0.3794014],"study_design_scores_gemma":[0.002302759,0.0003159203,0.01561401,0.0005644559,0.0005270834,0.00692114,0.0002325498,0.04457396,0.01836662,0.01288169,0.8969598,0.0007400877],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"software","genre_gemma":"methods","genre_scores_codex":[0.02444996,0.003679504,0.3844998,0.005087017,0.003626558,0.0009311751,0.07050541,0.4950262,0.01219433],"genre_scores_gemma":[0.04930644,0.002996006,0.6932311,0.004428013,0.001699943,0.001396329,0.183952,0.04225298,0.02073712],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02623976,"threshold_uncertainty_score":0.08778071,"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."}}