@article{e7a05f187cb74e5ba98b32dfd0b9aa76,
title = "An enhanced MITOMAP with a global mtDNA mutational phylogeny",
abstract = "The MITOMAP (http://www.mitomap.org) data system for the human mitochondrial genome has been greatly enhanced by the addition of a navigable mutational mitochondrial DNA (mtDNA) phylogenetic tree of ∼3000 mtDNA coding region sequences plus expanded pathogenic mutation tables and a nuclear-mtDNA pseudogene (NUMT) data base. The phylogeny reconstructs the entire mutational history of the human mtDNA, thus defining the mtDNA haplogroups and differentiating ancient from recent mtDNA mutations. Pathogenic mutations are classified by both genotype and phenotype, and the NUMT sequences permits detection of spurious inclusion of pseudogene variants during mutation analysis. These additions position MITOMAP for the implementation of our automated mtDNA sequence analysis system, Mitomaster.",
author = "Eduardo Ruiz-Pesini and Lott, {Marie T.} and Vincent Procaccio and Poole, {Jason C.} and Brandon, {Marty C.} and Dan Mishmar and Christina Yi and James Kreuziger and Pierre Baldi and Wallace, {Douglas C.}",
note = "Funding Information: This research has been supported by NIH grants NS213L8, HL64017, AG13154 and an Ellison Foundation Senior Investigator Grant awarded to Douglas C. Wallace; NIH Biomedical Informatics Training Grant T15 LM007443, NSF grant EIA-0321390 and a UCI Laurel Wilknening Faculty Innovation Award to Pierre Baldi; and Spanish Fondo de Investigacion Sanitaria grant # PI050647, Diputacion General de Aragon Grupos consolidados B33 and by Ciber Enfermedades raras (CB06/07/0043). Funding to pay the Open Access publication charges for this article was provided by AG24373.",
year = "2007",
month = jan,
day = "1",
doi = "10.1093/nar/gkl927",
language = "English",
volume = "35",
pages = "D823--D828",
journal = "Nucleic Acids Research",
issn = "0305-1048",
publisher = "Oxford University Press",
number = "SUPPL. 1",
}