Alignment of Next-Generation Sequencing Reads

Annu Rev Genomics Hum Genet. 2015:16:133-51. doi: 10.1146/annurev-genom-090413-025358. Epub 2015 May 4.

Abstract

High-throughput DNA sequencing has considerably changed the possibilities for conducting biomedical research by measuring billions of short DNA or RNA fragments. A central computational problem, and for many applications a first step, consists of determining where the fragments came from in the original genome. In this article, we review the main techniques for generating the fragments, the main applications, and the main algorithmic ideas for computing a solution to the read alignment problem. In addition, we describe pitfalls and difficulties connected to determining the correct positions of reads.

Keywords: high-throughput sequencing; read mapping; string indices.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Algorithms*
  • Genome
  • High-Throughput Nucleotide Sequencing / methods*
  • Polyploidy
  • Repetitive Sequences, Nucleic Acid
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods*
  • Software