{"id":"W4404318525","doi":"10.1136/jmg-2024-110115","title":"Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes","year":2024,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; BC Children's Hospital; Hospital for Sick Children; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"Canadian Institutes of Health Research; Canada Research Chairs; BC Cancer Agency; Simons Foundation Autism Research Initiative; BC Children's Hospital","keywords":"Subtyping; Angelman syndrome; Proband; Genetics; Genomic imprinting; Biology; Uniparental disomy; Multiplex ligation-dependent probe amplification; Computational biology; DNA methylation; Mutation; Computer science; Gene; Exon; Karyotype; Chromosome","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":[0.0006335093,0.0003594213,0.0003204773,0.0009400889,0.0001980984,0.0004348719,0.0003657152,0.000511458,0.0007506537],"category_scores_gemma":[0.001727758,0.000156579,0.0003006519,0.0003933312,0.0001923934,0.000250546,0.0004175113,0.0004526769,0.0002992951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002421866,"about_ca_system_score_gemma":0.00021663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009864935,"about_ca_topic_score_gemma":0.003945375,"domain_scores_codex":[0.999278,0.0001665658,0.00005475778,0.0002666121,0.0001721738,0.00006185951],"domain_scores_gemma":[0.9992911,0.0002643546,0.0001490982,0.00008209891,0.0001360629,0.0000772335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005810153,0.0001498511,0.1406035,0.0003268757,0.000266511,0.002205289,0.0006872612,0.002282806,0.7602963,0.001116693,0.001320707,0.09016308],"study_design_scores_gemma":[0.00007409581,0.00104884,0.4032362,0.0002404547,0.0004928275,0.01362657,0.0008500715,0.05488776,0.4987722,0.003483475,0.02317051,0.0001169816],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9282079,0.003487927,0.06213044,0.0003407515,0.0001172731,0.0001441007,0.002419156,0.0004949853,0.002657493],"genre_scores_gemma":[0.9325175,0.0009533726,0.06310438,0.0003812481,0.00004578048,0.0001196248,0.001541408,0.00007070483,0.001266092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009864935,"threshold_uncertainty_score":0.003350377,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02282721489263505,"score_gpt":0.2930482432374433,"score_spread":0.2702210283448082,"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."}}