Detecting tandem repeat expansions using short-read sequencing for clinical use
- Author(s)
- Bennett, Mark F; Tucci, Arianna; Bahlo, Melanie;
- Journal Title
- Nueromethods
- Abstract
- Repeat expansion disorders are a unique class of genetic diseases caused by expansions of short tandem repeats. Until recently, these pathogenic variations were detected with locus-by-locus lab-based methods leading to underascertainment and were thought to be undetectable by short-read sequencing. Repeat expansion disorders present with a diverse set of phenotypes including overlap with several common complex neurological disorders; hence, the importance of their detection is becoming increasingly recognized.
- Publisher
- Springer US
- Research Division(s)
- Population Health And Immunity
- Publisher's Version
- https://doi.org/10.1007/978-1-0716-2357-2_2
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2022-06-17 10:01:13
Last Modified: 2022-06-17 10:02:40