{"id":"W3120316388","doi":"10.1002/ajmg.a.62079","title":"<scp><i>SCYL1</i></scp> disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of <scp><i>SCYL1</i></scp>","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Alberta Health Services; McMaster University; McMaster Children's Hospital; University of Toronto; SickKids Foundation; Stollery Children's Hospital; Hospital for Sick Children","funders":"","keywords":"Exome sequencing; Liver transplantation; Phenotype; Gene duplication; Transplantation; Medicine; Disease; Exome; Liver disease; Exon; Clinical phenotype; Bioinformatics; Biology; Genetics; Pathology; Internal medicine; 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":[0.0001613185,0.0007322022,0.0002492843,0.000889551,0.0005057628,0.0003685343,0.0002813924,0.0007121049,0.002557997],"category_scores_gemma":[0.0007973143,0.0002923119,0.00023423,0.0006542195,0.000439426,0.0003237493,0.0003685717,0.0005719354,0.0003638736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002997103,"about_ca_system_score_gemma":0.0003517901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001149582,"about_ca_topic_score_gemma":0.001480341,"domain_scores_codex":[0.99981,0.00002242043,0.00003475363,0.00005802968,0.00003252575,0.00004218533],"domain_scores_gemma":[0.999376,0.0001667598,0.0002054027,0.00003021184,0.00003342628,0.0001882407],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004018923,0.0000853005,0.2637867,0.0001239204,0.00006047892,0.6909651,0.0006101796,0.0002049796,0.03173231,0.0002484575,0.00107073,0.01071],"study_design_scores_gemma":[0.00002574256,0.0001708901,0.1461934,0.00002182092,0.00003060406,0.8483038,0.0001892712,0.00024597,0.003342233,0.0001348247,0.001327709,0.00001381159],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971992,0.0003782945,0.0004714947,0.0001585702,0.00001320859,0.00002083138,0.0002136849,0.00002755922,0.001517226],"genre_scores_gemma":[0.9984269,0.000228591,0.0004194229,0.00008190558,0.00002774594,0.00001156631,0.0003302316,0.000007215617,0.0004664314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002557997,"threshold_uncertainty_score":0.00855732,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007131729596713081,"score_gpt":0.2413394486508435,"score_spread":0.2342077190541304,"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."}}