{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001898604,0.0004623545,0.0002451529,0.0007492297,0.0004519835,0.0004152968,0.0001906482,0.000448638,0.001133521],"category_scores_gemma":[0.0009271755,0.0001313448,0.0002161228,0.0005735518,0.0001849418,0.0001252275,0.000487948,0.000192281,0.0002713607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002746706,"about_ca_system_score_gemma":0.0001264931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002202519,"about_ca_topic_score_gemma":0.002173051,"domain_scores_codex":[0.9998108,0.00002180991,0.0000390669,0.00005912287,0.00004460415,0.00002470418],"domain_scores_gemma":[0.9997175,0.00007461803,0.00005638511,0.00002764672,0.00008557268,0.00003825456],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001700062,0.0001040657,0.8218428,0.0003199697,0.0002051042,0.03552656,0.002750174,0.001546564,0.09186041,0.0002353266,0.001706267,0.04220269],"study_design_scores_gemma":[0.0001413941,0.0002978245,0.8931585,0.00007908523,0.0001702094,0.07424455,0.001144397,0.002900929,0.01710308,0.0002518011,0.01047118,0.00003709532],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983451,0.0003010075,0.0002190236,0.00003604136,0.000004996568,0.000009844125,0.0007684818,0.000006464541,0.0003089682],"genre_scores_gemma":[0.9965169,0.0002419935,0.0006135393,0.00008714823,0.000007023835,0.00001131251,0.002283659,0.000005873057,0.0002326143],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002202519,"threshold_uncertainty_score":0.004379392,"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."}}