{"id":"W3153841443","doi":"10.1038/s10038-021-00925-x","title":"High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses","year":2021,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"Sällskapet Barnavård; Stiftelsen Samariten; Karolinska Institutet; Stiftelsen Frimurare Barnhuset i Stockholm; Barncancerfonden; Vetenskapsrådet; Stockholms Läns Landsting","keywords":"Ciliopathies; Biology; Genetics; Ciliopathy; Massive parallel sequencing; Exome sequencing; Exon; Gene; Phenotype; DNA sequencing","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001495144,0.0001992082,0.0003138987,0.0001223086,0.0001172644,0.00007224125,0.0001677057,0.0001190067,0.00004015513],"category_scores_gemma":[0.0003685151,0.0001851843,0.0001363258,0.0001120849,0.0001081017,0.000008400353,0.000147989,0.0001691726,3.59515e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000280825,"about_ca_system_score_gemma":0.0002946596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003080529,"about_ca_topic_score_gemma":0.00004940662,"domain_scores_codex":[0.9986275,0.000105625,0.0005300705,0.0002447596,0.0002267253,0.0002653548],"domain_scores_gemma":[0.9990419,0.00004233157,0.0003046638,0.0001987752,0.0002216882,0.0001906386],"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":[0.00002297816,0.00002643127,0.00712628,0.00003610876,0.000130495,0.0006433112,0.0001083931,0.01378097,0.9777148,0.00001369576,0.00005029716,0.0003461795],"study_design_scores_gemma":[0.003987795,0.002206991,0.6120573,0.0004491075,0.0008600543,0.003423208,0.00252659,0.001580313,0.3689638,0.002279368,0.0004673084,0.00119814],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813447,0.01534133,0.003036962,0.00005376538,0.0001102557,0.00006326705,0.00002277268,0.000002248977,0.00002471277],"genre_scores_gemma":[0.9843611,0.0009227063,0.01417887,0.0001317573,0.0003180321,0.000001123557,0.00002271653,0.000021783,0.00004192066],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.608751,"threshold_uncertainty_score":0.7551595,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04376474009252043,"score_gpt":0.303525099263373,"score_spread":0.2597603591708526,"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."}}