An update to MitoTool: using a new scoring system for faster mtDNA haplogroup determination.

The determination of human mitochondrial DNA (mtDNA) haplogroups is not only crucial in anthropological and forensic studies, but is also helpful in the medical field to prevent establishment of wrong disease associations. In recent years, high-throughput technologies and the huge amounts of data they create, as well as the regular updates to the mtDNA phylogenetic tree, mean that there is a need for an automated approach which can make a speedier determination of haplogroups than can be made by using the traditional manual method. Here, we update the MitoTool (www.mitotool.org) by incorporating a novel scoring system for the determination of mtDNA into haplogroups, which has advantages on speed, accuracy and ease of implementation. In order to make the access to MitoTool easier, we also provide a stand-alone version of the program that will run on a local computer and this version is freely available at the MitoTool website.

[1]  Ji Han Kim,et al.  MitoVariome: a variome database of human mitochondrial DNA , 2009, BMC Genomics.

[2]  A. Amorim,et al.  mtDNAoffice: a software to assign human mtDNA macro haplogroups through automated analysis of the protein coding region. , 2012, Mitochondrion.

[3]  Saharon Rosset,et al.  A "Copernican" reassessment of the human mitochondrial DNA tree from its root. , 2012, American journal of human genetics.

[4]  B. Malyarchuk,et al.  The Peopling of Europe from the Mitochondrial Haplogroup U5 Perspective , 2010, PloS one.

[5]  Yong-Gang Yao,et al.  MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations. , 2011, Mitochondrion.

[6]  Chih Lee,et al.  Ensemble learning algorithms for classification of mtDNA into haplogroups , 2011, Briefings Bioinform..

[7]  K. Imaizumi,et al.  Mitochondrial DNA population data of HV1 and HV2 sequences from Japanese individuals. , 2008, Legal Medicine.

[8]  D. Vieira,et al.  Mitochondrial DNA sequence analysis of a native Bolivian population. , 2010, Journal of forensic and legal medicine.

[9]  T. Parsons,et al.  Mitochondrial DNA control region variation in a population sample from Hong Kong, China. , 2009, Forensic science international. Genetics.

[10]  Z. Zafarina,et al.  Sequence polymorphisms of mtDNA HV1, HV2, and HV3 regions in the Malay population of Peninsular Malaysia , 2010, International Journal of Legal Medicine.

[11]  N. Morling,et al.  Mitochondrial DNA HV1 and HV2 variation in Danes. , 2010, Forensic science international. Genetics.

[12]  Mark Stoneking,et al.  High-throughput sequencing of complete human mtDNA genomes from the Philippines. , 2011, Genome research.

[13]  Manfred Kayser,et al.  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation , 2009, Human mutation.

[14]  C. Bravi,et al.  A reappraisal of complete mtDNA variation in East Asian families with hearing impairment , 2006, Human Genetics.

[15]  Mark R. Wilson,et al.  The mtDNA Population Database: An Integrated Software and Database Resource for Forensic Comparison , 2002 .

[16]  Knut Reinert,et al.  SeqAn An efficient, generic C++ library for sequence analysis , 2008, BMC Bioinformatics.

[17]  A. Chakravarti,et al.  The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. , 2004, Genome research.

[18]  H. Bandelt,et al.  Detecting errors in mtDNA data by phylogenetic analysis , 2001, International Journal of Legal Medicine.

[19]  Günther Specht,et al.  HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups , 2011, Human mutation.

[20]  Hans-Jürgen Bandelt,et al.  mtDNA data mining in GenBank needs surveying. , 2009, American journal of human genetics.

[21]  Sung-Bae Cho,et al.  mtDNAmanager: a Web-based tool for the management and quality analysis of mitochondrial DNA control-region sequences , 2008, BMC Bioinformatics.

[22]  Francesco Rubino,et al.  HmtDB, a genomic resource for mitochondrion-based human variability studies , 2011, Nucleic Acids Res..

[23]  M. Coble,et al.  Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations , 2010, International Journal of Legal Medicine.

[24]  Hans-Jürgen Bandelt,et al.  Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics , 2012, International Journal of Legal Medicine.

[25]  D. Turnbull,et al.  Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA , 1999, Nature Genetics.

[26]  Sequence polymorphism of the mitochondrial DNA control region in the population of Vojvodina Province, Serbia. , 2010, Legal medicine.