{"id":"W3048663104","doi":"10.1002/ajmg.a.61814","title":"Whole genome sequence analysis identifies a <scp>PAX2</scp> mutation to establish a correct diagnosis for a syndromic form of hyperuricemia","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Gout, Hyperuricemia, Uric Acid","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Kidney Research UK; Medical Research Council; National Institute for Health and Care Research; Medical Research Council Canada; Wellcome Trust","keywords":"Hyperuricemia; Whole genome sequencing; Mutation; Sequence (biology); Genome; Genetics; Computational biology; Biology; Gene; Endocrinology; Uric acid","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":[0.0001844179,0.0004253324,0.0002113813,0.0009741951,0.0003224141,0.0003431634,0.0002017122,0.000765988,0.001456881],"category_scores_gemma":[0.0004923013,0.0001193195,0.0002738512,0.0003402076,0.0002558161,0.0001721229,0.0002310086,0.0003992824,0.0003079059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001622334,"about_ca_system_score_gemma":0.0001538155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001523968,"about_ca_topic_score_gemma":0.001992621,"domain_scores_codex":[0.9998382,0.00001832711,0.00002044424,0.00003921341,0.00005557299,0.00002814815],"domain_scores_gemma":[0.9998168,0.00006781492,0.0000322832,0.00001151482,0.0000334781,0.00003802164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0002600754,0.00005482405,0.09982248,0.0001114429,0.00009537369,0.06306311,0.0002946642,0.0005437985,0.8108315,0.00056136,0.0008970613,0.02346425],"study_design_scores_gemma":[0.0000558319,0.0003197234,0.4668104,0.0001148303,0.0002065794,0.2072662,0.0007137316,0.01266018,0.3001999,0.0008894053,0.01072569,0.00003752737],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915173,0.0006688278,0.00414531,0.0003533932,0.0000400044,0.00003309083,0.000417292,0.0001456526,0.002679243],"genre_scores_gemma":[0.9960168,0.0002224132,0.002990325,0.0001424645,0.00001598999,0.000007104357,0.0002542064,0.00001536969,0.0003353254],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001523968,"threshold_uncertainty_score":0.004873753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02912968458408406,"score_gpt":0.3064788801002236,"score_spread":0.2773491955161395,"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."}}