{"id":"W2026258702","doi":"10.1038/sj.ejhg.5200684","title":"Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1","year":2001,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Science Council","keywords":"Myotonic dystrophy; Haplotype; Genetics; Allele; Locus (genetics); Biology; Trinucleotide repeat expansion; Myotonia; Allele frequency; Population; Gene; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002907282,0.0001947557,0.0003591623,0.0003903326,0.0001663726,0.00004271873,0.0006635822,0.0000261427,0.00004486947],"category_scores_gemma":[0.0004372716,0.0001569568,0.0002039027,0.0012773,0.0004210017,0.00007061505,0.0001243347,0.0001731524,0.000002979779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003899781,"about_ca_system_score_gemma":0.0001695645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001238178,"about_ca_topic_score_gemma":0.00001509814,"domain_scores_codex":[0.9977609,0.0005388039,0.0008348974,0.0003144684,0.0003085916,0.0002423213],"domain_scores_gemma":[0.9978188,0.0001333993,0.0007867853,0.0005440629,0.0006033977,0.0001136153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001296761,0.0003183521,0.05555427,0.00009043155,0.0001360153,0.00001938601,0.0005894232,0.02502174,0.9171078,0.0005192839,0.00006170361,0.0004519733],"study_design_scores_gemma":[0.001198415,0.00182566,0.8923054,0.00009986731,0.001205991,0.00005775801,0.0001150486,0.001121241,0.1007918,0.0007362891,0.0002638394,0.0002786974],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978315,0.0007624662,0.0004533714,0.0001842494,0.0001383829,0.0003701674,0.00005921968,0.000006223858,0.0001943704],"genre_scores_gemma":[0.9987465,0.0003348275,0.0005674562,0.00008329836,0.00005142421,0.000003530793,0.000003087146,0.0000410113,0.0001688243],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8367512,"threshold_uncertainty_score":0.6400512,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04195526860965448,"score_gpt":0.3016794476472073,"score_spread":0.2597241790375528,"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."}}