ArticleEmerging topics in life sciences2023
Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
Article in Emerging topics in life sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.Brain communications · 2026Article
- Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts.NPJ Parkinson's disease · 2025Article
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
- The molecular landscape of hereditary ataxia: a single-center study.Human genetics · 2025Article
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
- Repeating themes of plastic genes and therapeutic schemes targeting the 'tandem repeatome'.Brain communications · 2024Article
- Expanding horizons of tandem repeats in biology and medicine: Why 'genomic dark matter' matters.Emerging topics in life sciences · 2023Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
Hereditary cerebellar ataxias are a heterogenous group of progressive neurological disorders that are disproportionately caused by repeat expansions (REs) of short tandem repeats (STRs). 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.
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