Short Read Mapping: An Algorithmic Tour

Stefan Canzar, Steven L. Salzberg

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Ultra-high-throughput next-generation sequencing (NGS) technology allows us to determine the sequence of nucleotides of many millions of DNA molecules in parallel. Accompanied by a dramatic reduction in cost since its introduction in 2004, NGS technology has provided a new way of addressing a wide range of biological and biomedical questions, from the study of human genetic disease to the analysis of gene expression, protein-DNA interactions, and patterns of DNA methylation. The data generated by NGS instruments comprise huge numbers of very short DNA sequences, or 'reads,' that carry little information by themselves. These reads therefore have to be pieced together by well-engineered algorithms to reconstruct biologically meaningful measurements, such as the level of expression of a gene. To solve this complex, high-dimensional puzzle, reads must be mapped back to a reference genome to determine their origin. Due to sequencing errors and to genuine differences between the reference genome and the individual being sequenced, this mapping process must be tolerant of mismatches, insertions, and deletions. Although optimal alignment algorithms to solve this problem have long been available, the practical requirements of aligning hundreds of millions of short reads to the 3-billion-base-pair-long human genome have stimulated the development of new, more efficient methods, which today are used routinely throughout the world for the analysis of NGS data.

Original languageEnglish (US)
Article number7244195
Pages (from-to)436-458
Number of pages23
JournalProceedings of the IEEE
Issue number3
StatePublished - Mar 2017


  • Burrows-Wheeler transform
  • DNA sequencing
  • sequence alignment
  • string matching
  • suffix trees

ASJC Scopus subject areas

  • General Computer Science
  • Electrical and Electronic Engineering


Dive into the research topics of 'Short Read Mapping: An Algorithmic Tour'. Together they form a unique fingerprint.

Cite this