REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

BACKGROUND: Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify repeat expansions in whole genome or exome sequencing dat...

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Detalles Bibliográficos
Autores principales: Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367089/
https://www.ncbi.nlm.nih.gov/pubmed/35948990
http://dx.doi.org/10.1186/s13073-022-01085-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367089/
https://www.ncbi.nlm.nih.gov/pubmed/35948990
http://dx.doi.org/10.1186/s13073-022-01085-z

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