{"id":"W4408854573","doi":"10.1101/gr.279414.124","title":"Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing","year":2025,"lang":"en","type":"article","venue":"Genome Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Sigrid Juséliuksen Säätiö; Bundesministerium für Bildung und Forschung; ZonMw; Canada Foundation for Innovation; Deutsche Forschungsgemeinschaft; European Commission; Canada First Research Excellence Fund; Canada Research Chairs; Government of Canada","keywords":"Indel; Biology; Genetics; Genetic testing; Disease; DNA sequencing; Whole genome sequencing; Rare disease; Genome; Computational biology; Gene; Single-nucleotide polymorphism; Genotype; Medicine; Pathology","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":[0.00149762,0.0004639861,0.0004729119,0.003380803,0.000467153,0.0008352753,0.0006791623,0.0007748366,0.001122875],"category_scores_gemma":[0.004404782,0.0002539764,0.0003815528,0.001208406,0.0004019368,0.000416351,0.0006889747,0.0004118084,0.0002437547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004324546,"about_ca_system_score_gemma":0.0003790444,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003229587,"about_ca_topic_score_gemma":0.004961755,"domain_scores_codex":[0.9987949,0.000270893,0.0001754682,0.0003781586,0.000217535,0.0001629459],"domain_scores_gemma":[0.9980965,0.0008898698,0.0003665824,0.0002325345,0.0002547343,0.0001597471],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003484664,0.0001070601,0.8670769,0.0001835752,0.0001391338,0.0338704,0.001356428,0.0007993338,0.0432499,0.0008339117,0.001622366,0.05041244],"study_design_scores_gemma":[0.00007900794,0.0002949293,0.8644494,0.0002106559,0.0003115297,0.09773035,0.00105587,0.009440465,0.01389225,0.001320237,0.01115898,0.00005639264],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923978,0.001108266,0.004206858,0.0001371212,0.00001450096,0.00005564967,0.000712058,0.0001023819,0.001265255],"genre_scores_gemma":[0.9891641,0.0006766609,0.007904461,0.0002157808,0.00003716759,0.00002457522,0.001640543,0.00003658497,0.0003001995],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003380803,"threshold_uncertainty_score":0.007920325,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04089740467422606,"score_gpt":0.3496437207074777,"score_spread":0.3087463160332516,"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."}}