{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001203545,0.001024195,0.001164958,0.007700208,0.0005773902,0.00167522,0.001199744,0.0008557453,0.03386689],"category_scores_gemma":[0.00418881,0.0003817707,0.0004445691,0.005870894,0.0002233876,0.001364652,0.001442253,0.0008612338,0.02261654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004344971,"about_ca_system_score_gemma":0.002048269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00286438,"about_ca_topic_score_gemma":0.002735135,"domain_scores_codex":[0.9995099,0.0001190702,0.0001404292,0.00009188546,0.0001031039,0.00003561239],"domain_scores_gemma":[0.9977438,0.0006301936,0.0003620418,0.0003655317,0.0005090961,0.000389324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006718602,0.0001236358,0.006914213,0.001985924,0.0001518291,0.0008444755,0.0002693377,0.0009961472,0.004422611,0.006753388,0.7148463,0.2620202],"study_design_scores_gemma":[0.0002554243,0.000058784,0.00958776,0.0003642261,0.0001282169,0.002150509,0.0001328728,0.001193067,0.002164418,0.005144706,0.9787489,0.0000711176],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.01809184,0.01289073,0.03818707,0.002456411,0.0005341725,0.0004556733,0.8781894,0.01660518,0.03258967],"genre_scores_gemma":[0.02114384,0.00547715,0.04022315,0.0006737507,0.0002065854,0.0004648596,0.925006,0.0009991606,0.005805644],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.03386689,"threshold_uncertainty_score":0.113296,"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."}}