{"id":"W4205756598","doi":"10.3390/genes13010126","title":"Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Peter und Traudl Engelhorn Stiftung; Deutsche Forschungsgemeinschaft; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung","keywords":"Retrotransposon; Biology; Genetics; DNA methylation; Amplicon; Methylation; Locus (genetics); CpG site; Nanopore sequencing; Genotyping; Molecular biology; DNA sequencing; Gene; Genotype; Genome; Polymerase chain reaction; Gene expression","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000196696,0.0002195105,0.0002177877,0.0004047872,0.0001225336,0.0002323108,0.0001818214,0.0004355726,0.0005424354],"category_scores_gemma":[0.0005795814,0.0001345647,0.0002358145,0.0001557857,0.0002045367,0.0001545573,0.0002032375,0.000268413,0.0002061886],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001623907,"about_ca_system_score_gemma":0.00007488963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006481947,"about_ca_topic_score_gemma":0.001121772,"domain_scores_codex":[0.9998428,0.00001872131,0.00001185156,0.00006633427,0.00003957515,0.00002079919],"domain_scores_gemma":[0.9997439,0.0000865272,0.00007520102,0.00002756512,0.00004150377,0.00002533915],"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":[0.0001092972,0.00001441721,0.007694099,0.00003489021,0.00002116991,0.0001108475,0.00007874711,0.0002213052,0.9864008,0.00003463837,0.00002667943,0.005253188],"study_design_scores_gemma":[0.00001346249,0.0004893377,0.1250381,0.00002219971,0.0001190016,0.003038362,0.0001453313,0.01051999,0.8584915,0.0003046351,0.001787951,0.00003006214],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862688,0.0004686791,0.01237506,0.00003031836,0.000006143287,0.00002367767,0.0004010792,0.00007948552,0.0003467218],"genre_scores_gemma":[0.984245,0.0002228825,0.01461444,0.00004026464,0.000003457494,0.00002966825,0.0004131796,0.00001921859,0.0004119903],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0006481947,"threshold_uncertainty_score":0.001814604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01814695538332263,"score_gpt":0.24812769715943,"score_spread":0.2299807417761074,"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."}}