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Bhak, Jong
KOrean GenomIcs Center(KOGIC)
Research Interests
  • Geromics, genomics, bioinformatics, protein Engineering, OMICS

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MitoVariome: a variome database of human mitochondrial DNA

Cited 8 times inthomson ciCited 11 times inthomson ci
Title
MitoVariome: a variome database of human mitochondrial DNA
Other Titles
MitoVariome: a variome database of human mitochondrial DNA
Author
Lee, Yong SeokKim, Woo-YeonJi, MihyunKim, Ji HanBhak, Jong Hwa
Keywords
GENOME DATABASE; SEQUENCE; MITOMAP
Issue Date
2009-09
Publisher
BIOMED CENTRAL LTD
Citation
BMC GENOMICS, v.10, no.SUPPL. 3, pp.S12 -
Abstract
Background: Mitochondrial sequence variation provides critical information for studying human evolution and variation. Mitochondrial DNA provides information on the origin of humans, and plays a substantial role in forensics, degenerative diseases, cancers, and aging process. Typically, human mitochondrial DNA has various features such as HVSI, HVSII, single-nucleotide polymorphism (SNP), restriction enzyme sites, and short tandem repeat (STR). Results: We present a variome database (MitoVariome) of human mitochondrial DNA sequences. Queries against MitoVariome can be made using accession numbers or haplogroup/continent. Query results are presented not only in text but also in HTML tables to report extensive mitochondrial sequence variation information. The variation information includes repeat pattern, restriction enzyme site polymorphism, short tandem repeat, disease information as well as single nucleotide polymorphism. It also provides a graphical interface as Gbrowse displaying all variations at a glance. The web interface also provides the tool for assigning haplogroup based on the haplogroup-diagnostic system with complete human mitochondrial SNP position list and for retrieving sequences that users query against by using accession numbers. Conclusion: MitoVariome is a freely accessible web application and database that enables human mitochondrial genome researchers to study genetic variation in mitochondrial genome with textual and graphical views accompanied by assignment function of haplogrouping if users submit their own data. Hence, the MitoVariome containing many kinds of variation features in the human mitochondrial genome will be useful for understanding mitochondrial variations of each individual, haplogroup, or geographical location to elucidate the history of human evolution
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DOI
10.1186/1471-2164-10-S3-S12
ISSN
1471-2164
Appears in Collections:
BME_Journal Papers
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