{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003275646,0.0001588702,0.0002318288,0.00004938403,0.0003279172,0.00001896059,0.00006600286,0.00005268462,0.000144992],"category_scores_gemma":[0.00003213868,0.00009863459,0.00003928405,0.0003038809,0.00007398552,0.00006119139,0.00004484522,0.0003184532,0.000004925405],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008412098,"about_ca_system_score_gemma":0.00005124144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003737081,"about_ca_topic_score_gemma":0.0001120983,"domain_scores_codex":[0.9987186,0.0001851602,0.0002739207,0.000348871,0.0002671054,0.0002063414],"domain_scores_gemma":[0.9995131,0.00006870121,0.0001245017,0.0002216734,0.00002602413,0.00004601584],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0014384,0.0003376234,0.8445073,0.0001212624,0.0003239093,0.001836892,0.007561387,0.005058601,0.1211428,0.001038745,0.00009198196,0.01654102],"study_design_scores_gemma":[0.02506396,0.005960691,0.8500031,0.0004485963,0.001243267,0.002052078,0.00914079,0.01668841,0.0649307,0.01739653,0.005503407,0.001568428],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957907,0.0006220918,0.00002870962,0.001929787,0.00006906489,0.0005335576,0.00000684915,0.00006173439,0.0009575092],"genre_scores_gemma":[0.9979472,0.00006186232,0.0007111947,0.0007722303,0.00001491796,0.00007456894,0.00004134073,0.00002534746,0.0003513678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05621212,"threshold_uncertainty_score":0.4022202,"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."}}