| Title: |
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data |
| Authors: |
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 |
| Publisher Information: |
BMC |
| Publication Year: |
2020 |
| Collection: |
The University of Melbourne: Digital Repository |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
1474-7596 |
| Relation: |
https://hdl.handle.net/11343/246361 |
| Availability: |
https://hdl.handle.net/11343/246361 |
| Rights: |
https://creativecommons.org/licenses/by/4.0 ; CC BY |
| Accession Number: |
edsbas.9D90D71C |
| Database: |
BASE |