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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genome Biol
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2020
Gaiak:
Method
Sarrera elektronikoa: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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