{"id":"W3137993255","doi":"10.1016/j.ejmg.2021.104193","title":"A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia","year":2021,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Newborn Screening Ontario; University of Saskatchewan","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Research Foundation; Ontario Genomics Institute","keywords":"Primary ciliary dyskinesia; Genetics; Exome sequencing; Biology; Exon; splice; Penetrance; Gene; Phenotype; Locus (genetics); Genetic heterogeneity; Copy-number variation; Splice site mutation; Candidate gene; Alternative splicing; Medicine; Bronchiectasis; Genome; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.002918443,0.0001554011,0.0004288508,0.00009026944,0.00007812896,0.00003306823,0.0002093646,0.00007354846,0.0006119491],"category_scores_gemma":[0.004545155,0.0001233774,0.0001297511,0.0002739454,0.0002109847,0.00005305751,0.0001869099,0.0007071981,0.00004991364],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004783634,"about_ca_system_score_gemma":0.001161089,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":9.186555e-7,"about_ca_topic_score_gemma":0.000001872429,"domain_scores_codex":[0.9966257,0.0006715247,0.0007648377,0.0002383634,0.001372802,0.0003267574],"domain_scores_gemma":[0.9973192,0.0008049341,0.0002045056,0.0002650225,0.0005789998,0.0008272976],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01107329,0.001914131,0.03421654,0.002596397,0.001545337,0.09388822,0.0021465,0.0001026007,0.2880398,0.0007082106,0.142172,0.421597],"study_design_scores_gemma":[0.02665135,0.004586617,0.1714325,0.003976706,0.000828996,0.05926656,0.0007056459,0.002759356,0.01426164,0.001059017,0.7137989,0.0006726861],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9404729,0.01602596,0.01901548,0.01802846,0.000607081,0.0003715683,0.000030378,0.00003031502,0.005417851],"genre_scores_gemma":[0.6569892,0.02269794,0.3060786,0.005496,0.002628843,0.000005612379,0.00008620542,0.0002467598,0.005770926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.571627,"threshold_uncertainty_score":0.6700414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01644109431844641,"score_gpt":0.313062610633457,"score_spread":0.2966215163150106,"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."}}