{"id":"W2074404510","doi":"10.1002/humu.10082","title":"Arab genetic disease database (AGDDB): A population-specific clinical and mutation database","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation","funders":"Johns Hopkins University","keywords":"Database; OMIM : Online Mendelian Inheritance in Man; Biology; Reference database; Population; Mendelian inheritance; Genetics; Computer science; Gene; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001176275,0.0001442904,0.0001089162,0.00006061531,0.000194276,0.00006302194,0.00008825454,0.00006315453,0.0001217255],"category_scores_gemma":[0.00006921164,0.0001510254,0.00006632937,0.00005735458,0.00008723772,0.00001536219,0.00006093889,0.00006306871,0.00003701505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008766661,"about_ca_system_score_gemma":0.00001447853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002109406,"about_ca_topic_score_gemma":0.00002946571,"domain_scores_codex":[0.9988164,0.0000932968,0.0003331193,0.0004674987,0.0001308695,0.0001588418],"domain_scores_gemma":[0.9992279,0.00001534063,0.0001127845,0.000376053,0.00006442687,0.0002034715],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00133035,0.004073507,0.5022433,0.0008626591,0.0005692642,0.002270932,0.001176145,0.003145542,0.2040709,0.008797619,0.06325825,0.2082015],"study_design_scores_gemma":[0.001824841,0.0002061211,0.985813,0.00003618556,0.000105863,0.00005562689,0.00009143732,0.003722902,0.0004769619,0.0008279994,0.006374707,0.0004643848],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946277,0.002970935,0.001633683,0.00006849733,0.0001272271,0.0002515282,0.0002093728,0.0000186093,0.00009244733],"genre_scores_gemma":[0.99203,0.0006466763,0.001081715,0.0001892974,0.0003619875,0.00002641277,0.005454507,0.00002519502,0.0001842359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4835696,"threshold_uncertainty_score":0.6158637,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03834655337878211,"score_gpt":0.3035247130153803,"score_spread":0.2651781596365982,"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."}}