Article

Ultrafast, alignment-free detection of repeat expansions in next-generation DNA and RNA sequencing data

2021-04-06

Abstract excerpt

Short tandem repeat expansions are an established cause of diseases such as Huntington’s disease. Bioinformatic methods for detecting repeat expansions in short-read sequencing have revealed new repeat expansions in humans. Current bioinformatic methods to detect repeat expansions require alignment information to identify repetitive motif enrichment at genomic locations. We present superSTR, an ultrafast method th...

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Literature Corpus work: b218e1c1-0947-5c62-b4ae-9213cc9a2ea6
DOI: 10.1101/2021.04.05.438449

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