Article

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

2021-10-21

Abstract excerpt

<h4>Background</h4> 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 c...

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Literature Corpus work: 288e00ba-74f3-5055-911e-7c5be0c73196
DOI: 10.1101/2021.10.20.465046

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