Thanks to its outstanding features, human mitochondrial DNA (mtDNA) has been widely exploited in various disciplines, such as population, medical, and forensic genetics. However, the current population, medical and forensic genetic databases still have a large number of flawed sequence data in spite of several suggestions which have been made for avoiding errors in mtDNA sequencing and documentation. The recent interest and availability of applications for detecting errors in mtDNA data has resulted in the mtDNA haplogroup determination based on the well characterized mtDNA phylogeny as a useful a posteriori check on the quality of sequence data (Bandelt HJ et al. Int J Legal Med. 2001;115(2):64-69).

The goal of mtDNAmanager is to provide a web-based forensic mitochondrial bioinformatics resource for management and quality analysis of mtDNA sequence data, using a new approach based on haplogroup estimation and data comparison with the contents of a given database. mtDNAmanager consists of previously reported mtDNA sequences, and a set of bioinformatics tools, able to automatically characterize newly submitted data by estimating its haplogroup according to the haplogroup-specific control region mutation motif.

The mtDNAmanager interface was designed to allow the user to easily manage data and immediately view the results. We also felt important to be able to import the data with batch mode, allowing simultaneous estimation of haplogroups for the data being submitted. mtDNAmanager is made available free of charge, but registration is required to store and manage data with batch mode.

The mtDNAmanager was developed by:

Hwan Young Lee¹, Injee Song², Eunho Ha³, Sung-Bae Cho², Woo Ick Yang¹, and Kyoung-Jin Shin¹

¹Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, Korea
²Department of Computer Science, Yonsei University, Seoul, Korea
³Department of Information and Statistics, Yonsei University at Wonju, Gangwon-do, Korea

3. Publication in the BMC Bioinformatics. 2008;9(1):473.

2. Oral presentation (OP51) at the DNA in Forensics 2008 (Ancona, Italy), May 29, 2008.

1. Oral presentation (O-27) at the 22^nd Congress of the ISFG (Copenhagen, Denmark), August 23, 2007.

The mtDNAmanager was cited by:

10. Kim K, Brenner CH, Mair VH, Lee KH, Kim JH, Gelegdorj E, Batbold N, Song YC, Yun HW, Chang EJ, Lkhagvasuren G, Bazarragchaa M, Park AJ, Lim I, Hong YP, Kim W, Chung SI, Kim DJ, Chung YH, Kim SS, Lee WB, Kim KY. A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia. Am J Phys Anthropol. 2010; In press.

9. Tillmar AO, Coble MD, Wallerstrom T, Holmlund G. Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations. Int J Legal Med. 2010; In press.

8. Ricaut FX, Razafindrazaka H, Cox MP, Dugoujon JM, Guitard E, Sambo C, Mormina M, Mirazon-Lahr M, Ludes B, Crubezy E. A new deep branch of eurasian mtDNA macrohaplogroup M reveals additional complexity regarding the settlement of Madagascar. BMC Genomics. 2009;10(1):605.

7. Ottoni C, Martinez-Labarga C, Vitelli L, Scano G, Fabrini E, Contini I, Biondi G, Rickards O. Human mitochondrial DNA variation in Southern Italy. Ann Hum Biol. 2009;36(6):785-811.

6. Lopez-Parra AM, Fernandez E, Baeza C, Gamba C, Tirado M, Gusmao L, Mesa MS, Arroyo-Pardo E. Preliminary results of mitochondrial DNA sequence variation in Spanish Pyrenean populations. Forensic Sci Int Genet. Suppl. 2009;2(1):327-328.

5. Brettell TA, Butler JM, Almirall JR. Forensic Science. Anal Chem. 2009;81(12):4695-4711.

4. Gaweda-Walerych K, Maruszak A, Safranow K, Bialecka M, Klodowska-Duda G, Czyzewski K, Slawek J, Rudzinska M, Styczynska M, Opala G, Drozdzik M, Canter JA, Barcikowska M, Zekanowski C. Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort. J Neural Transm. 2008;115(11):1521-1526.

3. Sekiguchi K, Imaizumi K, Fujii K, Mizuno N, Ogawa Y, Akutsu T, Nakahara H, Kitayama T, Kasai K. Mitochondrial DNA population data of HV1 and HV2 sequences from Japanese individuals. Leg Med (Tokyo). 2008;10(5):284-286.

2. Lander N, Rojas MG, Chiurillo MA, Ramirez JL. Haplotype diversity in human mitochondrial DNA hypervariable regions I-III in the city of Caracas (Venezuela). Forensic Sci Int Genet. 2008;2(4):e61-e64.

1. Lee HY, Yoo JE, Park MJ, Kim CY, Shin KJ. Genetic characterization and assessment of authenticity of ancient Korean skeletal remains. Hum Biol. 2008;80(3):239-250.