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

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

Abstract 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 sequen...

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Bibliographic Details
Main Authors: Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Genome Medicine
Subjects:
Repeat expansions
Short tandem repeats
Visualization
Short-read sequencing data
Online Access:https://doi.org/10.1186/s13073-022-01085-z

Internet

https://doi.org/10.1186/s13073-022-01085-z

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