{"id":"W2971451168","doi":"10.1080/0886022x.2019.1655453","title":"Exome sequencing of Saudi Arabian patients with ADPKD","year":2019,"lang":"en","type":"article","venue":"Renal Failure","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"Imam Abdulrahman Bin Faisal University; City University of Hong Kong","keywords":"PKD1; Autosomal dominant polycystic kidney disease; Exome sequencing; Sanger sequencing; Medicine; Missense mutation; Genetics; Polycystic kidney disease; Exome; Internal medicine; Mutation; Pathology; Biology; Kidney; Gene","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":[0.00003070392,0.0001054823,0.0001169964,0.000023305,0.00001949542,0.000006435467,0.0001084936,0.00007180801,0.00008275775],"category_scores_gemma":[0.00001852826,0.00008167637,0.00005528557,0.00005886708,0.00003561135,0.000002409194,0.00004028627,0.00004070253,0.00002597774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008639248,"about_ca_system_score_gemma":0.000110725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009059903,"about_ca_topic_score_gemma":0.00001186333,"domain_scores_codex":[0.9993619,0.00001943338,0.0001140041,0.0002087697,0.0001406416,0.0001552201],"domain_scores_gemma":[0.9994886,0.000003499718,0.00006625429,0.0002589017,0.00009149485,0.00009126854],"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":[0.0001597878,0.00006576077,0.1865372,0.00007654577,0.00008604588,0.000002056596,0.00003786126,0.0001806199,0.8097523,0.00002512496,0.002699892,0.000376756],"study_design_scores_gemma":[0.003788137,0.002162987,0.3466486,0.0002747637,0.0001065143,0.00001286593,0.0002832061,0.00002983728,0.5850568,0.0000973097,0.06083843,0.0007005443],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984092,0.0001417317,0.0001053936,0.00004914677,0.00003012019,0.0001488855,0.00003611298,0.000005507437,0.001073914],"genre_scores_gemma":[0.9982278,0.000007468821,0.0008072236,0.0001074166,0.00004896826,0.000004400513,0.0001661074,0.00001427492,0.0006163241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2246956,"threshold_uncertainty_score":0.3330666,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002883523973464016,"score_gpt":0.1796911000005346,"score_spread":0.1768075760270706,"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."}}