{"id":"W4392698105","doi":"10.3233/jnd-230216","title":"Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with <i>RYR1</i> -Congenital Myopathy","year":2024,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"HORIZON EUROPE Health; Instituto de Salud Carlos III; Canadian Institutes of Health Research; HORIZON EUROPE Framework Programme; Agencia Estatal de Investigación; Canada Research Chairs; Canada First Research Excellence Fund; European Commission; Agència de Gestió d'Ajuts Universitaris i de Recerca; Government of Canada; Fundación Ramón Areces","keywords":"Proband; RYR1; Phenotype; Genetics; Exome sequencing; Asymptomatic; Myopathy; Medicine; Genetic testing; Biology; Mutation; Pathology; Gene","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":[0.0008915162,0.0004291076,0.0003022867,0.0009280276,0.0003156388,0.0006863343,0.0003413953,0.0007817523,0.001045241],"category_scores_gemma":[0.003263499,0.0001859046,0.0002639216,0.0003197915,0.0003011884,0.0002332584,0.0006021403,0.0005473663,0.0003798271],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001779939,"about_ca_system_score_gemma":0.0002110788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000669051,"about_ca_topic_score_gemma":0.001314285,"domain_scores_codex":[0.999424,0.0001409462,0.00005055616,0.0001928537,0.0001260551,0.00006571381],"domain_scores_gemma":[0.9989917,0.0005561421,0.0001363397,0.0001011363,0.0001228204,0.00009193087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0007091213,0.00009158828,0.4301205,0.0001541346,0.0001772778,0.0556193,0.001231949,0.002040176,0.4335511,0.001197928,0.002320317,0.07278663],"study_design_scores_gemma":[0.00005075798,0.000552737,0.6439719,0.0002122157,0.0004713279,0.1798163,0.001125119,0.02835476,0.1263146,0.004409215,0.01460942,0.0001117324],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9847991,0.0005803168,0.01099242,0.0009020625,0.00003849862,0.0000267287,0.0005892688,0.0002518884,0.001819615],"genre_scores_gemma":[0.9890392,0.0002334851,0.009763522,0.000266395,0.00003547301,0.000009376502,0.0002970706,0.00007548102,0.0002800654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001045241,"threshold_uncertainty_score":0.004714847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005146403997459393,"score_gpt":0.2230637650713967,"score_spread":0.2179173610739373,"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."}}