{"id":"W4385808024","doi":"10.1101/2023.08.08.23293829","title":"Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; University of Toronto; University Health Network","funders":"National Human Genome Research Institute; National Institutes of Health; Eesti Teadusagentuur; National Eye Institute; Chan Zuckerberg Initiative; Broad Institute; Silicon Valley Community Foundation","keywords":"Genome; Disease; DNA sequencing; Computational biology; Biology; Whole genome sequencing; Genetics; Evolutionary biology; Medicine; Gene; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.007260774,0.000640541,0.0006022264,0.004204933,0.0004211291,0.001415604,0.0006589671,0.0008548497,0.002093173],"category_scores_gemma":[0.01862435,0.0002925135,0.000842052,0.001662461,0.0006934601,0.0008332132,0.001749911,0.001115641,0.0008435352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004314951,"about_ca_system_score_gemma":0.0008997472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008147357,"about_ca_topic_score_gemma":0.001736268,"domain_scores_codex":[0.9961427,0.001998784,0.0002586908,0.0006349179,0.0007965234,0.000168409],"domain_scores_gemma":[0.9797056,0.01350454,0.00176464,0.002538323,0.001922986,0.0005638745],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0005838625,0.0001336487,0.4074903,0.001196297,0.0009656147,0.003923391,0.0008070052,0.006966118,0.04624861,0.006257073,0.01199604,0.513432],"study_design_scores_gemma":[0.0002849881,0.001374025,0.5615197,0.002205317,0.002093446,0.1037442,0.0009553802,0.05016848,0.07046534,0.0574698,0.1493549,0.0003643658],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5832388,0.03145031,0.3331959,0.01009196,0.0009483029,0.0007287819,0.008996787,0.003074452,0.02827476],"genre_scores_gemma":[0.7134118,0.008357695,0.2701645,0.002426852,0.0009623768,0.0003004839,0.00318947,0.0003261426,0.0008606302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007260774,"threshold_uncertainty_score":0.0383991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0332907902432092,"score_gpt":0.2702255005806171,"score_spread":0.2369347103374079,"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."}}