Volume 58, Issue 4 pp. 972-980
Technical Note

mtDNAprofiler: A Web Application for the Nomenclature and Comparison of Human Mitochondrial DNA Sequences,

In Seok Yang Ph.D.

In Seok Yang Ph.D.

Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

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Hwan Young Lee Ph.D.

Hwan Young Lee Ph.D.

Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

Human Identification Research Center, Yonsei University, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

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Woo Ick Yang Ph.D.

Woo Ick Yang Ph.D.

Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

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Kyoung-Jin Shin Ph.D.

Corresponding Author

Kyoung-Jin Shin Ph.D.

Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

Human Identification Research Center, Yonsei University, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752 Korea

Additional information and reprint requests:

Kyoung-Jin Shin, Ph.D.

Department of Forensic Medicine

Yonsei University College of Medicine

50 Yonsei-ro, Seodaemun-gu

Seoul 120-752

Korea

E-mail: [email protected]

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First published: 17 May 2013
Citations: 23
Presented at the 21st International Symposium on Human Identification, October 11–14, 2010, in San Antonio, TX, and the 34th Annual Meeting of the Korean Society for Legal Medicine, November 26, 2010, in Seoul, Korea.
Supported by a Future-Based Technology Development Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science, and Technology (Grant No. 2010-0020631).

Abstract

Mitochondrial DNA (mtDNA) is a valuable tool in the fields of forensic, population, and medical genetics. However, recording and comparing mtDNA control region or entire genome sequences would be difficult if researchers are not familiar with mtDNA nomenclature conventions. Therefore, mtDNAprofiler, a Web application, was designed for the analysis and comparison of mtDNA sequences in a string format or as a list of mtDNA single-nucleotide polymorphisms (mtSNPs). mtDNAprofiler which comprises four mtDNA sequence-analysis tools (mtDNA nomenclature, mtDNA assembly, mtSNP conversion, and mtSNP concordance-check) supports not only the accurate analysis of mtDNA sequences via an automated nomenclature function, but also consistent management of mtSNP data via direct comparison and validity-check functions. Since mtDNAprofiler consists of four tools that are associated with key steps of mtDNA sequence analysis, mtDNAprofiler will be helpful for researchers working with mtDNA. mtDNAprofiler is freely available at http://mtprofiler.yonsei.ac.kr.

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