Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
- Author(s)
- Fearnley, LG; Bennett, MF; Bahlo, M;
- Details
- Publication Year 2022-07-30,Volume 12,Issue #1,Page 13124
- Journal Title
- Scientific Reports
- 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.
- Publisher
- NPG
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 35907931
- Publisher's Version
- https://doi.org/10.1038/s41598-022-17267-z
- Open Access at Publisher's Site
https://doi.org/10.1038/s41598-022-17267-z - NHMRC Grants
- NHMRC/1102971,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2022-08-08 09:15:48
Last Modified: 2022-08-08 09:42:17