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They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington\u2019s disease, the hereditary cerebellar ataxias, amyotrophic lateral sclerosis and frontotemporal dementia.<\/jats:p>\n <\/jats:sec>\n \n Main body<\/jats:title>\n \n STR expansions are difficult to detect and may explain unsolved diseases, as highlighted by recent findings including: the discovery of a biallelic intronic \u2018AAGGG\u2019 repeat in\n RFC1<\/jats:italic>\n as the cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS); and the finding of \u2018CGG\u2019 repeat expansions in\n NOTCH2NLC<\/jats:italic>\n as the cause of neuronal intranuclear inclusion disease and a range of clinical phenotypes. However, established laboratory techniques for diagnosis of repeat expansions (repeat-primed PCR and Southern blot) are cumbersome, low-throughput and poorly suited to parallel analysis of multiple gene regions. While next generation sequencing (NGS) has been increasingly used, established short-read NGS platforms (e.g., Illumina) are unable to genotype large and\/or complex repeat expansions. Long-read sequencing platforms recently developed by Oxford Nanopore Technology and Pacific Biosciences promise to overcome these limitations to deliver enhanced diagnosis of repeat expansion disorders in a rapid and cost-effective fashion.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n We anticipate that long-read sequencing will rapidly transform the detection of short tandem\u00a0repeat expansion disorders for both clinical diagnosis and gene discovery.<\/jats:p>\n <\/jats:sec>","DOI":"10.1186\/s40478-021-01201-x","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T05:03:24Z","timestamp":1621919004000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":179,"title":["An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics"],"prefix":"10.1186","volume":"9","author":[{"given":"Sanjog R.","family":"Chintalaphani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9003-0101","authenticated-orcid":false,"given":"Sandy S.","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3861-0472","authenticated-orcid":false,"given":"Ira W.","family":"Deveson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-6962","authenticated-orcid":false,"given":"Kishore R.","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,25]]},"reference":[{"key":"1201_CR1","doi-asserted-by":"publisher","unstructured":"Ahsan U, Liu Q, Fang L, Wang K (2020) NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks. bioRxiv. https:\/\/doi.org\/10.1101\/2019.12.29.890418","DOI":"10.1101\/2019.12.29.890418"},{"key":"1201_CR2","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1093\/hmg\/5.7.945","volume":"5","author":"A Akarsu","year":"1996","unstructured":"Akarsu A, Stoilov I, Yilmaz E, Sayil B, Sarfarazi M (1996) Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. 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