Unified View of Backward Backtracking in Short Read Mapping

  • Veli Mäkinen
  • Niko Välimäki
  • Antti Laaksonen
  • Riku Katainen
Part of the Lecture Notes in Computer Science book series (LNCS, volume 6060)

Abstract

Mapping short DNA reads to the reference genome is the core task in the recent high-throughput technologies to study e.g. protein-DNA interactions (ChIP-seq) and alternative splicing (RNA-seq). Several tools for the task (bowtie, bwa, SOAP2, TopHat) have been developed that exploit Burrows-Wheeler transform and the backward backtracking technique on it, to map the reads to their best approximate occurrences in the genome. These tools use different tailored mechanisms for small error-levels to prune the search phase significantly. We propose a new pruning mechanism that can be seen a generalization of the tailored mechanisms used so far. It uses a novel idea of storing all cyclic rotations of fixed length substrings of the reference sequence with a compressed index that is able to exploit the repetitions created to level out the growth of the input set. For RNA-seq we propose a new method that combines dynamic programming with backtracking to map efficiently and correctly all reads that span two exons. Same mechanism can also be used for mapping mate-pair reads.

Keywords

Personal genomics full-text indexing compressed data structures 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • Veli Mäkinen
    • 1
  • Niko Välimäki
    • 1
  • Antti Laaksonen
    • 1
  • Riku Katainen
    • 1
  1. 1.Department of Computer ScienceUniversity of HelsinkiFinland

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