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Genetic diagnosis for RE disorders such as ataxias are difficult as the current gold standard for diagnosis is repeat-primed PCR assays or Southern blots, neither of which are scalable nor readily available for all STR loci. In the last five years, significant advances have been made in our ability to detect STRs and REs in short-read sequencing data, especially whole-genome sequencing. Given the increasing reliance of genomics in diagnosis of rare diseases, the use of established RE detection pipelines for RE disorders is now a highly feasible and practical first-step alternative to molecular testing methods. In addition, many new pathogenic REs have been discovered in recent years by utilising WGS data. Collectively, genomes are an important resource\/platform for further advancements in both the discovery and diagnosis of REs that cause ataxia and will lead to much needed improvement in diagnostic rates for patients with hereditary ataxia.<\/jats:p>","DOI":"10.1042\/etls20230018","type":"journal-article","created":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T15:06:00Z","timestamp":1695308760000},"page":"349-359","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future"],"prefix":"10.1042","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8954-4930","authenticated-orcid":false,"given":"Haloom","family":"Rafehi","sequence":"additional","affiliation":[{"name":"1Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"},{"name":"2Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark F.","family":"Bennett","sequence":"additional","affiliation":[{"name":"1Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"},{"name":"2Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia"},{"name":"3Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5132-0774","authenticated-orcid":false,"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[{"name":"1Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"},{"name":"2Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2023,9,21]]},"reference":[{"key":"2023121411243175700_ETLS-2023-0018CC1","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000358801","article-title":"The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies","volume":"42","year":"2014","journal-title":"Neuroepidemiology"},{"key":"2023121411243175700_ETLS-2023-0018CC2","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1212\/CON.0000000000001180","article-title":"Neurodegenerative cerebellar ataxia","volume":"28","year":"2022","journal-title":"Continuum"},{"key":"2023121411243175700_ETLS-2023-0018CC3","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/s10048-021-00656-3","article-title":"Milestones in genetics of cerebellar ataxias","volume":"22","year":"2021","journal-title":"Neurogenetics"},{"key":"2023121411243175700_ETLS-2023-0018CC4","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/S1474-4422(21)00462-2","article-title":"Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study","volume":"21","year":"2022","journal-title":"Lancet Neurol."},{"key":"2023121411243175700_ETLS-2023-0018CC5","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/s41525-022-00295-z","article-title":"Best practices for the interpretation and reporting of clinical whole genome sequencing","volume":"7","year":"2022","journal-title":"NPJ Genom. 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