ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

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 n...

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Detalhes bibliográficos

Principais autores:	Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-04-01
coleção:	Genome Biology
Assuntos:	Repeat expansions Short tandem repeats Whole-genome sequencing data Genome-wide analysis Friedreich ataxia Myotonic dystrophy type 1
Acesso em linha:	http://link.springer.com/article/10.1186/s13059-020-02017-z
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