ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte M. Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan Herman Veldink, , Michael A. Eberle
ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.
Genome biology · Apr 28, 2020Peer-reviewedBioinformatics