{"id":"W4407087543","doi":"10.1101/gr.279970.124","title":"The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases","year":2025,"lang":"en","type":"review","venue":"Genome Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian HIV Trials Network, Canadian Institutes of Health Research; Genome Alberta; Canada Research Chairs; Genome British Columbia; Génome Québec; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Biology; DNA sequencing; Computational biology; Diagnostic test; Whole genome sequencing; Genetics; Genome; Workflow; Bioinformatics; Gene; Computer science; Medicine; Pediatrics","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":[0.0005205818,0.0002641726,0.0005859512,0.0002960268,0.0002312796,0.00006397888,0.0008172509,0.0002705056,0.0003673383],"category_scores_gemma":[0.004869752,0.0001923919,0.00040279,0.0005137959,0.0002912637,0.000002464698,0.0005669952,0.0003811654,0.00002037313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000193543,"about_ca_system_score_gemma":0.003895372,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005596581,"about_ca_topic_score_gemma":0.0001626571,"domain_scores_codex":[0.9975711,0.000437866,0.000503812,0.0005332135,0.0003899381,0.0005641334],"domain_scores_gemma":[0.9950226,0.003748598,0.0001313841,0.0007130076,0.000241917,0.0001425086],"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":[0.0001065634,0.0003720521,0.0002870288,0.03461769,0.0007804223,0.0008308604,0.00003563363,0.00007208063,0.00009453947,0.0004699423,0.03655606,0.9257771],"study_design_scores_gemma":[0.0001299437,0.0001073325,0.0005262984,0.005814203,0.00009518812,0.00001557724,0.00006612475,7.664316e-7,0.00001082998,0.0001497116,0.9928422,0.0002418537],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001937204,0.991336,0.000005058722,0.0000276464,0.0000902879,0.0009159685,0.006626227,0.000004395511,0.0008006482],"genre_scores_gemma":[0.0009145201,0.9879887,0.00001062929,0.00001351406,0.0002792236,0.0007132699,0.008422724,0.00002702162,0.001630434],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9562861,"threshold_uncertainty_score":0.7845515,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07212311228084639,"score_gpt":0.3826036481234743,"score_spread":0.3104805358426279,"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."}}