Dolzhenko, Egor
Bennett, Mark
Richmond, Phillip
Trost, Brett
Chen, Sai
van Vugt, Joke
Nguyen, Charlotte
Narzisi, Giuseppe
Gainullin, Vladimir
Gross, Andrew
Lajoie, Bryan
Taft, Ryan
Wasserman, Wyeth
Scherer, Stephen
Veldink, Jan
Bentley, David
Yuen, Ryan
Bahlo, Melanie
Eberle, Michael
2020-02-18
<p>ExpansionHunter Denovo (EHdn) is a suite of tools for detecting novel expansions of short tandem repeats. EHdn is intended for analysis of a collection of BAM/CRAM files containing alignments of short (100-200bp) reads.</p>
https://doi.org/10.5281/zenodo.3674022
oai:zenodo.org:3674022
Zenodo
https://doi.org/10.5281/zenodo.3674021
info:eu-repo/semantics/openAccess
Apache License 2.0
http://www.apache.org/licenses/LICENSE-2.0
repeat expansions
short tandem repeats
whole genome sequencing data
genome-wide analysis
Friedreich's ataxia
Myotonic Dystrophy type 1
Huntington's disease
fragile X syndrome
ExpansionHunter Denovo: a suite of tools for detecting novel expansions of short tandem repeats
info:eu-repo/semantics/other