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Mega-md: molecular evolutionary genetics analysis software with mutational diagnosis of amino acid variation

  • G Stecher
  • , L Liu
  • , M Sanderford
  • , D Peterson
  • , K Tamura
  • , S Kumar

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

Abstract

Summary: Computational diagnosis of amino acid variants in the human exome is the first step in assessing the disruptive impacts of non-synonymous single nucleotide variants (nsSNVs) on human health and disease. The Molecular Evolutionary Genetics Analysis software with mutational diagnosis (MEGA-MD) is a suite of tools developed to forecast the deleteriousness of nsSNVs using multiple methods and to explore nsSNVs in the context of the variability permitted in the longterm evolution of the affected position. In its graphical interface for use on desktops, it enables interactive computational diagnosis and evolutionary exploration of nsSNVs. As a web service, MEGA-MD is suitable for diagnosing variants on an exome scale. The MEGA-MD suite intends to serve the needs for conducting low- and high-throughput analysis of nsSNVs in diverse applications.

Original languageAmerican English
Pages (from-to)1305-1307
Number of pages3
JournalBioinformatics
Volume30
Issue number9
DOIs
StatePublished - May 1 2014

Keywords

  • Amino Acids/genetics
  • Animals
  • Evolution, Molecular
  • Exome
  • High-Throughput Nucleotide Sequencing/methods
  • Humans
  • Mutation
  • Software

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