{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001628253,0.0007564044,0.0007413413,0.001985842,0.0003553233,0.0007184785,0.0003962785,0.0007179925,0.0007157131],"category_scores_gemma":[0.002939658,0.0003386379,0.0006404765,0.0005534308,0.0003764297,0.000215065,0.0006797111,0.0005232497,0.0005165024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003070819,"about_ca_system_score_gemma":0.0003208922,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006849898,"about_ca_topic_score_gemma":0.001216686,"domain_scores_codex":[0.998431,0.0003299307,0.00009871714,0.0004538175,0.0005822293,0.000104224],"domain_scores_gemma":[0.9986882,0.0006963742,0.0001461507,0.0001579692,0.0002204961,0.00009083675],"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":[0.0004888679,0.00007515738,0.0478344,0.0003160694,0.0003092944,0.00263354,0.0001278577,0.003195707,0.8713058,0.0005395722,0.001373226,0.0718004],"study_design_scores_gemma":[0.0002441269,0.0006162052,0.2265466,0.0001557324,0.0008880363,0.02047082,0.0001765441,0.1049425,0.6250802,0.005871337,0.01486525,0.000142743],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8367789,0.004201986,0.1474782,0.0009572667,0.0001156963,0.0003018647,0.003931839,0.00298581,0.003248503],"genre_scores_gemma":[0.8573734,0.001064897,0.1364165,0.0004993024,0.00009554041,0.0001720413,0.003472239,0.000262911,0.0006430992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001985842,"threshold_uncertainty_score":0.008611083,"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."}}