Open AccessmtDNA Variation and Analysis Using Mitomap and Mitomaster
Author(s) -
Lott Marie T.,
Leipzig Jeremy N.,
Derbeneva Olga,
Xie H. Michael,
Chalkia Dimitra,
Sarmady Mahdi,
Procaccio Vincent,
Wallace Douglas C.
Publication year - 2013
Publication title -
current protocols in bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.535
H-Index - 57
eISSN - 1934-340X
pISSN - 1934-3396
DOI - 10.1002/0471250953.bi0123s44
Subject(s) - haplogroup , mitochondrial dna , genbank , genetics , human mitochondrial genetics , biology , human mitochondrial dna haplogroup , human genome , gene , population , genetic variation , dna sequencing , computational biology , evolutionary biology , genome , haplotype , allele , medicine , environmental health
Abstract The Mitomap database of human mitochondrial DNA (mtDNA) information has been an important compilation of mtDNA variation for researchers, clinicians, and genetic counselors for the past 25 years. The Mitomap protocol shows how users may look up human mitochondrial gene loci, search for public mitochondrial sequences, and browse or search for reported general population nucleotide variants as well as those reported in clinical disease. Within Mitomap is the powerful sequence analysis tool for human mitochondrial DNA, Mitomaster. The Mitomaster protocol gives step‐by‐step instructions showing how to submit sequences to identify nucleotide variants relative to the rCRS, determine the haplogroup, and view species conservation. User‐supplied sequences, GenBank identifiers, and single‐nucleotide variants may be analyzed. Curr. Protoc. Bioinform . 44:1.23.1‐1.23.26. © 2013 by John Wiley & Sons, Inc.