{"id":"W2516206938","doi":"10.1038/srep30850","title":"Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)","year":2016,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia","funders":"Ministero dell’Istruzione, dell’Università e della Ricerca","keywords":"PKD1; Autosomal dominant polycystic kidney disease; Cohort; Disease; Genetics; Multiplex ligation-dependent probe amplification; Genetic heterogeneity; Medicine; Internal medicine; Biology; Polycystic kidney disease; Allelic heterogeneity; Bioinformatics; Allele; Phenotype; Exon; 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":[0.0006314429,0.0004361275,0.0004378788,0.001471448,0.0006594367,0.0006688884,0.0003444004,0.0005355375,0.001464281],"category_scores_gemma":[0.002451946,0.0003674797,0.0003663372,0.001324408,0.0004770983,0.0003648413,0.0005658861,0.0003692734,0.0005147024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002973033,"about_ca_system_score_gemma":0.0002137347,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004517116,"about_ca_topic_score_gemma":0.003148257,"domain_scores_codex":[0.9995471,0.00008341704,0.00005172127,0.0001653301,0.00008089932,0.00007151224],"domain_scores_gemma":[0.9991731,0.0002233667,0.0002775245,0.0001384466,0.00007385969,0.0001137076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001112627,0.0000164379,0.9960833,0.000009142791,0.00002619869,0.00055029,0.0003115395,0.00005150833,0.001029999,0.00002765883,0.0001314296,0.001651158],"study_design_scores_gemma":[0.000008077662,0.00006260136,0.9972647,0.000004262689,0.00002133543,0.001848642,0.0001190011,0.0001301986,0.00008502149,0.00002831088,0.0004227015,0.00000507168],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993538,0.0001253261,0.00007571958,0.00002130919,0.000001981379,0.000006163863,0.0002040955,0.000002748224,0.0002087503],"genre_scores_gemma":[0.9989095,0.0001280723,0.0001347091,0.00002597187,0.00001250976,0.00001335317,0.0005969002,0.000006141294,0.0001729064],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004517116,"threshold_uncertainty_score":0.008981645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003647776488442789,"score_gpt":0.2096773636592646,"score_spread":0.2060295871708219,"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."}}