| Title: | Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment |
| Journal: | Scientific Reports |
| Published: | 30 Jul 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/35907931/ |
| DOI: | https://doi.org/10.1038/s41598-022-17267-z |
| URL: | https://www.nature.com/articles/s41598-022-17267-z.pdf |
| Citations: | 9 (9 in last 2 years) as of 8 Aug 2024 |
Publication 7076
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Abstract
Bioinformatic methods for detecting short tandem repeat expansions in short-read sequencing have identified new repeat expansions in humans, but require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method that does not require alignment. superSTR is used to process whole-genome and whole-exome sequencing data, and perform the first STR analysis of the UK Biobank, efficiently screening and identifying known and potential disease-associated STRs in the exomes of 49,953 biobank participants. We demonstrate the first bioinformatic screening of RNA sequencing data to detect repeat expansions in humans and mouse models of ataxia and dystrophy.3 Authors
- L. G. Fearnley
- M. F. Bennett
- M. Bahlo
1 Application
| Application ID | Title |
|---|---|
| 36610 | Exploring the genetic basis of healthy development and ageing: gene discovery and methods development. |
Enabling scientific discoveries that improve human health