{"id":"W4390697502","doi":"10.1002/mds.29704","title":"Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Memphis Research Consortium; NIHR Sheffield Biomedical Research Centre; Medical Research Council; University College London; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Cancer Research UK; Multiple System Atrophy Coalition; Brain Research UK; National Institutes of Health; Wellcome Trust; Rosetrees Trust; Department of Health and Social Care; Michael J. Fox Foundation for Parkinson's Research","keywords":"Genetics; Spinocerebellar ataxia; Biology; Trinucleotide repeat expansion; Deep sequencing; Proband; Locus (genetics); Nanopore sequencing; Exome sequencing; DNA sequencing; Gene; Genome; Computational biology; Mutation; Allele","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003920324,0.0006205323,0.0004723462,0.0003855143,0.0002581764,0.0002455519,0.0005023752,0.0001495533,0.00005067876],"category_scores_gemma":[0.002780091,0.0005681508,0.0001498435,0.001744154,0.0002290918,0.0003683874,0.0002400288,0.0004512777,0.0001393444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004945379,"about_ca_system_score_gemma":0.0003450224,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001888268,"about_ca_topic_score_gemma":0.0008177835,"domain_scores_codex":[0.9951839,0.0005266942,0.0006012013,0.001606215,0.001045177,0.001036751],"domain_scores_gemma":[0.9976824,0.001030668,0.0002239107,0.0006835699,0.0001227531,0.000256678],"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":[0.00005063795,0.0009032803,0.07997695,0.0003009025,0.0001776398,0.0008618515,0.005731875,0.01422231,0.8606396,0.001318939,0.03338908,0.002426958],"study_design_scores_gemma":[0.002657773,0.002209078,0.09654524,0.001504876,0.0002451831,0.000005292381,0.007108776,0.008302746,0.8665565,0.0119804,0.002299945,0.0005841782],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913989,0.001504119,0.0004335911,0.0002349557,0.0005343485,0.001228974,0.0001153486,0.0003416184,0.004208182],"genre_scores_gemma":[0.9892201,0.0005023578,0.0001121445,0.003898402,0.00005976161,0.0001366881,0.00006123845,0.0001423309,0.005867009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03108914,"threshold_uncertainty_score":0.999677,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02846468656911554,"score_gpt":0.2522316171272826,"score_spread":0.223766930558167,"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."}}