{"id":"W2979752261","doi":"10.1016/j.kint.2019.08.038","title":"Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease","year":2019,"lang":"en","type":"article","venue":"Kidney International","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":78,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Center for Research Resources; National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Advancing Translational Sciences; Fulbright Association; University of Colorado Denver; Mayo Clinic; University of Pittsburgh; American Society of Nephrology; University of Toronto","keywords":"PKD1; Polycystic kidney disease; Autosomal dominant polycystic kidney disease; Biology; Genetics; Population; Genetic testing; Disease; Germline mosaicism; Mutation; Kidney; Medicine; Pathology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004132554,0.0002339334,0.0002895959,0.002090598,0.0002794594,0.0005334729,0.0002444166,0.000312962,0.001097598],"category_scores_gemma":[0.001735266,0.0002077378,0.000250611,0.0006398814,0.0003904404,0.0002202701,0.000409603,0.0003340129,0.0001965819],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000156915,"about_ca_system_score_gemma":0.0002154334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001218073,"about_ca_topic_score_gemma":0.0008637449,"domain_scores_codex":[0.9994722,0.00008755893,0.00007322063,0.0001236528,0.000154173,0.00008910878],"domain_scores_gemma":[0.999104,0.0003172052,0.0001789876,0.00006253066,0.0001366754,0.0002005694],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009598376,0.00006524286,0.3044922,0.00005697312,0.00005878142,0.007508643,0.0004130228,0.0002049362,0.6769225,0.0004548015,0.0001288566,0.008734209],"study_design_scores_gemma":[0.00003153076,0.0004582379,0.727541,0.00002157414,0.0001115182,0.06156949,0.0005788285,0.002680957,0.2045806,0.000373879,0.002026963,0.00002538242],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997377,0.0002633267,0.001254953,0.00003788422,0.000007178846,0.00001292608,0.000176821,0.00002790885,0.0008419718],"genre_scores_gemma":[0.99805,0.00008753137,0.001443942,0.00001334333,0.00000477056,0.00000731773,0.0001714451,0.00001110428,0.0002106345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002090598,"threshold_uncertainty_score":0.003671825,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003576645021663352,"score_gpt":0.2139617427333041,"score_spread":0.2103850977116407,"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."}}