Article

Robust detection of tandem repeat expansions from long DNA reads

2018-06-27

Abstract excerpt

Tandemly repeated sequences are highly mutable and variable features of genomes. Tandem repeat expansions are responsible for a growing list of human diseases, even though it is hard to determine tandem repeat sequences with current DNA sequencing technology. Recent long-read technologies are promising, because the DNA reads are often longer than the repetitive regions, but are hampered by high error rates. Here,...

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Literature Corpus work: c9faa213-21b1-548c-9aa5-d673d09a33ba
DOI: 10.1101/356931

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