{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004347503,0.002088027,0.0009980496,0.001797003,0.001795153,0.0009983672,0.001479017,0.00457649,0.009551015],"category_scores_gemma":[0.003583047,0.0002715217,0.001835436,0.001054452,0.001407733,0.0004991067,0.0006970107,0.001585953,0.002165964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000842786,"about_ca_system_score_gemma":0.0007659997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006067426,"about_ca_topic_score_gemma":0.00360095,"domain_scores_codex":[0.9989933,0.0001385473,0.0001943559,0.0003000249,0.0002279831,0.0001457481],"domain_scores_gemma":[0.9972458,0.001238149,0.0004762881,0.0001826535,0.0003017521,0.0005554429],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001981048,0.0003563038,0.01892387,0.0001885553,0.000391336,0.8268653,0.0009021323,0.001463431,0.1320667,0.003148745,0.002948315,0.01076432],"study_design_scores_gemma":[0.0009966753,0.002568549,0.1761172,0.0004357392,0.001731894,0.6924867,0.001288465,0.01340712,0.08486069,0.006222575,0.01931687,0.0005675623],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784737,0.00108761,0.006417944,0.002266218,0.001735773,0.0004786338,0.003129114,0.0003054161,0.006105522],"genre_scores_gemma":[0.9937869,0.0001341417,0.00177386,0.0006407726,0.0003486991,0.0000511681,0.000754128,0.0000961781,0.002414189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009551015,"threshold_uncertainty_score":0.03195137,"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."}}