{"id":"W4410901524","doi":"10.1136/jmg-2024-110262","title":"Using long-read sequencing to detect and subtype a case with Temple syndrome","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; BC Children's Hospital; University of British Columbia; Hospital for Sick Children; B.C. Women's Hospital & Health Centre; Canada's Michael Smith Genome Sciences Centre","funders":"Canadian Institutes of Health Research; Canada Research Chairs; BC Cancer Agency; BC Children's Hospital","keywords":"Genomic imprinting; Methylation; DNA methylation; Uniparental disomy; Biology; Multiplex; Genetics; Imprinting (psychology); Nanopore sequencing; Computational biology; Epigenomics; Differentially methylated regions; DNA sequencing; Chromosome; Gene; Karyotype","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":[0.0002120782,0.0004129118,0.0002482677,0.001013441,0.0002765747,0.0003729147,0.0003026659,0.0009628072,0.0005547532],"category_scores_gemma":[0.0009138951,0.0001763711,0.0002565222,0.0002273969,0.0003743195,0.000344233,0.0003824359,0.0004514928,0.0002440722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002130343,"about_ca_system_score_gemma":0.0001963559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001126066,"about_ca_topic_score_gemma":0.002159911,"domain_scores_codex":[0.9997078,0.00002609366,0.00003353797,0.000107318,0.00008287883,0.00004247801],"domain_scores_gemma":[0.9996312,0.0001396533,0.00006150952,0.00003469126,0.00005134101,0.00008166628],"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":[0.0003102859,0.0001019971,0.08578794,0.0001075628,0.00006447808,0.247084,0.0007278815,0.001384167,0.6271289,0.0006102297,0.0006736311,0.03601899],"study_design_scores_gemma":[0.00003282599,0.000439758,0.08994959,0.00006626354,0.0001932154,0.5863436,0.000736473,0.03420368,0.2802367,0.001790893,0.005939826,0.00006710163],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9796191,0.0006147775,0.01708467,0.0003194171,0.00004581828,0.00006048464,0.0001389914,0.0001861532,0.001930601],"genre_scores_gemma":[0.9799936,0.0002897884,0.01855768,0.0001929268,0.00002388735,0.0000143558,0.0001881342,0.00003218407,0.0007074485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001126066,"threshold_uncertainty_score":0.002238989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02957498779789168,"score_gpt":0.3141845600856977,"score_spread":0.284609572287806,"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."}}