4.7 Article

Noise-cancelling repeat finder: uncovering tandem repeats in error-prone long-read sequencing data

期刊

BIOINFORMATICS
卷 35, 期 22, 页码 4809-4811

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OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btz484

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资金

  1. National Institute of General Medical Sciences of the National Institutes of Health [R01GM130691]
  2. Eberly College of Sciences, at Penn State
  3. Huck Institute of Life Sciences, at Penn State
  4. Institute for CyberScience, at Penn State
  5. Pennsylvania Department of Health
  6. CURE Funds

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A Summary: Tandem DNA repeats can be sequenced with long-read technologies, but cannot be accurately deciphered due to the lack of computational tools taking high error rates of these technologies into account. Here we introduce Noise-Cancelling Repeat Finder (NCRF) to uncover putative tandem repeats of specified motifs in noisy long reads produced by Pacific Biosciences and Oxford Nanopore sequencers. Using simulations, we validated the use of NCRF to locate tandem repeats with motifs of various lengths and demonstrated its superior performance as compared to two alternative tools. Using real human whole-genome sequencing data, NCRF identified long arrays of the (AATGG)(n) repeat involved in heat shock stress response.

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