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

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 m...

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Bibliographic Details
Published in:Genome Biol
Main Authors: Dolzhenko, Egor, Bennett, Mark F., Richmond, Phillip A., Trost, Brett, Chen, Sai, van Vugt, Joke J. F. A., Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G., Gross, Andrew M., Lajoie, Bryan R., Taft, Ryan J., Wasserman, Wyeth W., Scherer, Stephen W., Veldink, Jan H., Bentley, David R., Yuen, Ryan K. C., Bahlo, Melanie, Eberle, Michael A.
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
Subjects:
Method
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187524/
https://ncbi.nlm.nih.gov/pubmed/32345345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-020-02017-z
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