ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
- Author(s)
- Dolzhenko, E; Bennett, MF; Richmond, PA; Trost, B; Chen, S; van Vugt, Jjfa; Nguyen, C; Narzisi, G; Gainullin, VG; Gross, AM; Lajoie, BR; Taft, RJ; Wasserman, WW; Scherer, SW; Veldink, JH; Bentley, DR; Yuen, RKC; Bahlo, M; Eberle, MA;
- Details
- Publication Year 2020-04-28,Volume 21,Issue #1,Page 102
- Journal Title
- Genome Biology
- Publication Type
- Journal Article
- Abstract
- Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the need for methods that do not require pre-specified candidate repeats. To address this need, we introduce ExpansionHunter Denovo, an efficient catalog-free method for genome-wide repeat expansion detection. Analysis of real and simulated data shows that our method can identify large expansions of 41 out of 44 pathogenic repeats, including nine recently reported non-reference repeat expansions not discoverable via existing methods.
- Publisher
- BMC
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 32345345
- Publisher's Version
- https://doi.org/10.1186/s13059-020-02017-z
- Open Access at Publisher's Site
https://doi.org/10.1186/s13059-020-02017-z- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2020-05-04 10:30:31
Last Modified: 2020-05-04 10:39:47