{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T12:46:30Z","timestamp":1767962790229,"version":"3.49.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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 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.<\/jats:p>\n               <jats:p>Availability: \u00a0www.megasoftware.net\/mega-md and www.mypeg.info<\/jats:p>\n               <jats:p>Contact: \u00a0s.kumar@asu.edu<\/jats:p>","DOI":"10.1093\/bioinformatics\/btu018","type":"journal-article","created":{"date-parts":[[2014,1,12]],"date-time":"2014-01-12T01:28:34Z","timestamp":1389490114000},"page":"1305-1307","source":"Crossref","is-referenced-by-count":32,"title":["MEGA-MD: molecular evolutionary genetics analysis software with mutational diagnosis of amino acid variation"],"prefix":"10.1093","volume":"30","author":[{"given":"Glen","family":"Stecher","sequence":"first","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Liu","sequence":"additional","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxwell","family":"Sanderford","sequence":"additional","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Peterson","sequence":"additional","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichiro","family":"Tamura","sequence":"additional","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudhir","family":"Kumar","sequence":"additional","affiliation":[{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"1 Center for Evolutionary Medicine and Informatics, Biodesign Institute, Arizona State University (ASU), Tempe, AZ 85287, 2Research Center for Genomics and Bioinformatics, Tokyo Metropolitan University (TMU), Hachioji, Tokyo, Japan, 3Department of Biological Sciences, TMU, Tokyo, Japan, 4School of Life Sciences, ASU, Tempe, AZ 85287, USA and 5Center for Excellence in Genomic Medicine and Research, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2014,1,11]]},"reference":[{"key":"2023012710511850700_btu018-B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2023012710511850700_btu018-B2","doi-asserted-by":"crossref","first-page":"D876","DOI":"10.1093\/nar\/gkq963","article-title":"The UCSC Genome Browser database: update 2011","volume":"39","author":"Fujita","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"2023012710511850700_btu018-B3","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/humu.21490","article-title":"Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed","volume":"32","author":"Hicks","year":"2011","journal-title":"Hum. Mutat."},{"key":"2023012710511850700_btu018-B4","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.tig.2011.06.004","article-title":"Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations","volume":"27","author":"Kumar","year":"2011","journal-title":"Trends Genet."},{"key":"2023012710511850700_btu018-B5","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/nmeth.2147","article-title":"Evolutionary diagnosis method for variants in personal exomes","volume":"9","author":"Kumar","year":"2012","journal-title":"Nat. Methods"},{"key":"2023012710511850700_btu018-B6","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1093\/molbev\/mst037","article-title":"Evolutionary balancing is critical for correctly predicting amino acid variants with functional impact","volume":"30","author":"Liu","year":"2013","journal-title":"Mol. Biol. Evol."},{"key":"2023012710511850700_btu018-B7","doi-asserted-by":"crossref","first-page":"E2393","DOI":"10.1002\/humu.22376","article-title":"dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations","volume":"34","author":"Liu","year":"2013","journal-title":"Hum. Mutat."},{"key":"2023012710511850700_btu018-B8","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.drudis.2011.07.005","article-title":"In silico SNP analysis and bioinformatics tools: a review of the state of the art to aid drug discovery","volume":"16","author":"Mah","year":"2011","journal-title":"Drug Discov. Today"},{"key":"2023012710511850700_btu018-B9","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"2023012710511850700_btu018-B10","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/molbev\/mst197","article-title":"MEGA6: Molecular Evolutionary Genetics Analysis version 6.0","volume":"30","author":"Tamura","year":"2013","journal-title":"Mol. Biol. Evol."}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/30\/9\/1305\/48922754\/bioinformatics_30_9_1305.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/30\/9\/1305\/48922754\/bioinformatics_30_9_1305.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T11:30:27Z","timestamp":1674819027000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/30\/9\/1305\/237247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,11]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btu018","relation":{},"ISSN":["1367-4811","1367-4803"],"issn-type":[{"value":"1367-4811","type":"electronic"},{"value":"1367-4803","type":"print"}],"subject":[],"published-other":{"date-parts":[[2014,5,1]]},"published":{"date-parts":[[2014,1,11]]}}}