Article
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Genome medicine - 11 Aug 2022
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
Abstract excerpt
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 data. Despite the widely recognized need for visual assessment of variant calls in clinical settings, current...
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