MAQ

MAQ is a software tool used to align short reads to a reference genome and derive genotype calls of the consensus sequence of a diploid genome, such as in a human sample. The software is designed to use mate-pair information effectively and estimate the error probability of each read alignment. It is also capable of deriving error probabilities for the final genotype calls using a Bayesian statistical model that incorporates mapping qualities, error probabilities from raw sequence quality scores, sampling of the two haplotypes, and an empirical model for correlated errors at a site. MAQ is considered to be accurate, efficient, versatile, and user-friendly. However, its speed may be a concern when scaling up the alignment to the re-sequencing of hundreds of individuals.

Topic

Genomics

Detail

  • Operation: Read mapping

  • Software interface: Command-line user interface

  • Language: C++;Perl

  • License: The GNU General Public License v3.0

  • Cost: Free

  • Version name: 0.7.1

  • Credit: The Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom.

  • Input: FASTA

  • Output: -

  • Contact: lh3@sanger.ac.uk

  • Collection: -

  • Maturity: Legacy

Publications

  • Mapping short DNA sequencing reads and calling variants using mapping quality scores.
  • Li H, et al. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Mapping short DNA sequencing reads and calling variants using mapping quality scores. 2008; 18:1851-8. doi: 10.1101/gr.078212.108
  • https://doi.org/10.1101/gr.078212.108
  • PMID: 18714091
  • PMC: PMC2577856

Download and documentation


< Back to DB search