RRBSMAP: a fast, accurate and user-friendly alignment tool for reduced representation bisulfite sequencing

Bioinformatics. 2012 Feb 1;28(3):430-2. doi: 10.1093/bioinformatics/btr668. Epub 2011 Dec 6.

Abstract

Summary: Reduced representation bisulfite sequencing (RRBS) is a powerful yet cost-efficient method for studying DNA methylation on a genomic scale. RRBS involves restriction-enzyme digestion, bisulfite conversion and size selection, resulting in DNA sequencing data that require special bioinformatic handling. Here, we describe RRBSMAP, a short-read alignment tool that is designed for handling RRBS data in a user-friendly and scalable way. RRBSMAP uses wildcard alignment, and avoids the need for any preprocessing or post-processing steps. We benchmarked RRBSMAP against a well-validated MAQ-based pipeline for RRBS read alignment and observed similar accuracy but much improved runtime performance, easier handling and better scaling to large sample sets. In summary, RRBSMAP removes bioinformatic hurdles and reduces the computational burden of large-scale epigenome association studies performed with RRBS.

Availability: http://rrbsmap.computational-epigenetics.org/ http://code.google.com/p/bsmap/

Contact: [email protected]

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Methylation
  • Embryonic Stem Cells / metabolism
  • Genomics / methods
  • Humans
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods*
  • Software*
  • Sulfites
  • User-Computer Interface

Substances

  • Sulfites
  • hydrogen sulfite