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mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2006 (English)In: Nucleic Acids Research, ISSN 0305-1048, E-ISSN 1362-4962, Vol. 34, no Issue Database issue, 1, D749-D751 p.Article in journal (Refereed) Published
Abstract [en]

The mitochondrial genome, contained in the subcellular mitochondrial network, encodes a small number of peptides pivotal for cellular energy production. Mitochondrial genes are highly polymorphic and cataloguing existing variation is of interest for medical scientists involved in the identification of mutations causing mitochondrial dysfunction, as well as for population genetics studies. Human Mitochondrial Genome Database (mtDB) (http://www.genpat.uu.se/mtDB) has provided a comprehensive database of complete human mitochondrial genomes since early 2000. At this time, owing to an increase in the number of published complete human mitochondrial genome sequences, it became necessary to provide a web-based database of human whole genome and complete coding region sequences. As of August 2005 this database contains 2104 sequences (1544 complete genome and 560 coding region) available to download or search for specific polymorphisms. Of special interest to medical researchers and population geneticists evaluating specific positions is a complete list of (currently 3311) mitochondrial polymorphisms among these sequences. Recent expansions in the capabilities of mtDB include a haplotype search function and the ability to identify and download sequences carrying particular variants.

Place, publisher, year, edition, pages
2006. Vol. 34, no Issue Database issue, 1, D749-D751 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-87721DOI: 10.1093/nar/gkj010ISI: 000239307700157PubMedID: 16381973OAI: oai:DiVA.org:uu-87721DiVA: diva2:133345
Available from: 2009-01-09 Created: 2009-01-09 Last updated: 2017-12-14Bibliographically approved

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Gyllensten, Ulf

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