{"id":"W4389340473","doi":"10.1002/ajmg.a.63485","title":"<scp>RNA</scp> sequencing reveals deep intronic <scp><i>CEP120</i></scp> variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31","year":2023,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Institute of Biomedical Sciences, Academia Sinica; Canadian Institutes of Health Research; Academia Sinica; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Canada Excellence Research Chairs, Government of Canada; Génome Québec; Ontario Genomics Institute","keywords":"Medicine; Boycott; Sick child; Family medicine; Library science; Pediatrics; Political science; Law","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0002321107,0.0009340522,0.000387688,0.001145783,0.001212055,0.0007888497,0.0007305128,0.00182977,0.00418373],"category_scores_gemma":[0.001098495,0.0002517999,0.0004168059,0.0005408409,0.0007061266,0.0002221546,0.0006866444,0.001122487,0.001127815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009768876,"about_ca_system_score_gemma":0.001234263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04073514,"about_ca_topic_score_gemma":0.05126167,"domain_scores_codex":[0.9994341,0.00002294307,0.00003600704,0.0001682016,0.0002396687,0.00009912477],"domain_scores_gemma":[0.9992977,0.0002269785,0.00009185509,0.00003879473,0.000100009,0.0002446135],"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":[0.0001594698,0.00005527399,0.02201846,0.000101138,0.00004304841,0.7984713,0.001680804,0.0003745824,0.1510268,0.001969923,0.007241701,0.01685758],"study_design_scores_gemma":[0.00004898243,0.0001481967,0.113037,0.0001242545,0.00008238904,0.8036134,0.001028429,0.002413144,0.05174408,0.001494748,0.02618061,0.00008479191],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9658464,0.0007095471,0.006065153,0.003342657,0.0002929214,0.0001892605,0.004888907,0.0004296506,0.01823542],"genre_scores_gemma":[0.984639,0.0003744912,0.005701746,0.0007999528,0.00008349782,0.00003739599,0.001288079,0.0002244076,0.006851403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04073514,"threshold_uncertainty_score":0.0809961,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01093516269111437,"score_gpt":0.2693172819410947,"score_spread":0.2583821192499803,"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."}}