title: MEGA-MD: molecular evolutionary genetics analysis software with mutational diagnosis of amino acid variation.
abstract: 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 long-term 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.
authors.affiliation: Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, Department of Biological Sciences, TMU, Tokyo, Japan, School of Life Sciences, ASU, Tempe, AZ 85287, USA and Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Glen
authors.initials: G
authors.lastname: Stecher
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Maxwell
authors.initials: M
authors.lastname: Sanderford
authors.forename: Daniel
authors.initials: D
authors.lastname: Peterson
authors.forename: Koichiro
authors.initials: K
authors.lastname: Tamura
authors.forename: Sudhir
authors.initials: S
authors.lastname: Kumar
mesh_terms: D000596:Amino Acids / Q000235:genetics*; D000818:Animals; D019143:Evolution, Molecular; D059472:Exome; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation; D012984:Software
chemical_list: D000596:Amino Acids