{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001841234,0.0002293477,0.0002238466,0.0003738749,0.000279655,0.0002532375,0.0002116812,0.000580734,0.001035581],"category_scores_gemma":[0.0005637,0.0001141764,0.0002782747,0.0003903626,0.0002130616,0.00007282288,0.0002363396,0.0003583171,0.000243034],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000212754,"about_ca_system_score_gemma":0.000103098,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002488878,"about_ca_topic_score_gemma":0.006446334,"domain_scores_codex":[0.9998385,0.00001574031,0.00001308178,0.0000644244,0.00004556004,0.00002270345],"domain_scores_gemma":[0.9996926,0.0001287842,0.00006994529,0.00003547198,0.00003771668,0.00003555655],"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":[0.0009887794,0.00007412267,0.1791823,0.0001774497,0.0003868141,0.01206198,0.0006368418,0.002206764,0.7819746,0.0002732604,0.001599897,0.02043717],"study_design_scores_gemma":[0.00004874831,0.0002542888,0.9036192,0.00004609481,0.0002519418,0.01319102,0.0001966415,0.006570017,0.07110175,0.0003160992,0.004370473,0.00003381186],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973589,0.0001305243,0.001232741,0.00004641113,0.00000662648,0.000007702342,0.0008915353,0.00004705212,0.0002784134],"genre_scores_gemma":[0.9963894,0.00006239926,0.001744575,0.0001092612,0.000008223245,0.000009677779,0.001396761,0.00002048852,0.0002593295],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002488878,"threshold_uncertainty_score":0.004948735,"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."}}