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MitoVariome: A variome database of human mitochondrial DNA

8 th InCoB 2008 Singapore. MitoVariome: A variome database of human mitochondrial DNA. Yong Seok Lee Korean BioInformation Center, KRIBB. Human mitochondrial DNA. Maternally inherited R apid evolutionary rate

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MitoVariome: A variome database of human mitochondrial DNA

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  1. 8thInCoB 2008 Singapore MitoVariome: A variome database of human mitochondrial DNA Yong Seok Lee Korean BioInformation Center, KRIBB

  2. Human mitochondrial DNA • Maternally inherited • Rapid evolutionary rate • Lack of introns • Absence of recombination • Circular DNA, 16,569 bp • 22 tRNAs, 2 rRNAs, 13 protein coding genes, and a non-coding region

  3. Mitochondrial DNA sequence variation in human • Having variation features (HVSI, HVSII, SNP, restriction enzyme sites, and STR) • Providing critical information for studying human evolution, forensics, and aging process

  4. Mt DNA databases

  5. MitoVariome • Over 5,000 complete human sequences of mitochondrial DNA • Geographic location and haplogroup to elucidate the history of human evolution • Linked to GenBank and Pubmed database • Showing a graphical view of the variation information

  6. MitoVariome scheme

  7. MitoVariome input page

  8. The MitoVariome main output page

  9. Application of MitoVariome • Useful for understanding mitochondrial variations of each individual, haplogroup, or geographical location • Understanding of variation and its relationship with human evolution and disease • Assignment of haplogroup

  10. Example of MitoVariome • A Korean genome (SJK) • The first full length Korean individual genome sequence

  11. Example of MitoVariome • A Korean genome (SJK) • The first full length Korean individual genome sequence

  12. Conclusion • A database and analysis server for human mitochondrial DNA variation • A platform to retrieve all kinds of variation information • The function to assign haplogroup with user SNP data • Available at http://variome.kobic.re.kr/MitoVariome

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