{"id":"W4411901119","doi":"10.1186/s13073-025-01494-w","title":"Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort","year":2025,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; Children's Hospital of Eastern Ontario; Mental Health Research Canada; Ted Rogers Centre for Heart Research; University of Toronto; SickKids Foundation; Hospital for Sick Children; Mount Sinai Hospital; Provincial Health Services Authority","funders":"Sickkids Research Institute; Hospital for Sick Children","keywords":"Genetics; Biology; Computational biology; RNA; DNA sequencing; splice; Gene; Alternative splicing; RNA splicing; Genetic testing; Intron; Gene isoform","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":[0.002642164,0.0005256557,0.0003890119,0.001398614,0.0007678834,0.001024814,0.0004548919,0.0006947403,0.001917097],"category_scores_gemma":[0.005259762,0.0001968843,0.000535366,0.0005697515,0.000628728,0.0003271386,0.001144735,0.0007365881,0.0005404328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003624232,"about_ca_system_score_gemma":0.0005305912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001253887,"about_ca_topic_score_gemma":0.001462195,"domain_scores_codex":[0.998498,0.0003928827,0.000135765,0.0006139253,0.0002496715,0.0001096822],"domain_scores_gemma":[0.9977289,0.0009074223,0.0004858047,0.0003075408,0.0002623278,0.0003078777],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007708776,0.0000952452,0.923151,0.0001082589,0.000204189,0.008977122,0.000749188,0.001168521,0.03413394,0.001237965,0.001466477,0.02793708],"study_design_scores_gemma":[0.0001984873,0.001119799,0.8788388,0.0002518339,0.0007214553,0.0686167,0.001656082,0.01005821,0.0161496,0.005567613,0.01668814,0.0001332643],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864432,0.001127162,0.008343721,0.000496015,0.0000489792,0.00008928136,0.00139519,0.00009118618,0.001965206],"genre_scores_gemma":[0.9903173,0.0005238058,0.007235941,0.0002114003,0.0000765357,0.0000787508,0.001235963,0.00004150901,0.0002788624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002642164,"threshold_uncertainty_score":0.0139733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008933979026745581,"score_gpt":0.284796349749005,"score_spread":0.2758623707222594,"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."}}