MitoSAVE: Mitochondrial sequence analysis of variants in Excel

Jonathan L. King, Antti Sajantila, Bruce Budowle

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

The mitochondrial genome (mtGenome) contains genetic information amenable to numerous applications such as medical research, population and evolutionary studies, and human identity testing. However, inconsistent nomenclature assignment makes haplotype comparison difficult and can lead to false exclusion of potentially useful profiles. Massively Parallel Sequencing (MPS) is a platform for sequencing large datasets and potentially whole populations with relative ease. However, the data generated are not easily parsed and interpreted. With this in mind, mitoSAVE has been developed to enable fast conversion of Variant Call Format (VCF) files. mitoSAVE is an Excel-based workbook that converts data within the VCF into mtDNA haplotypes using phylogenetically-established nomenclature as well as rule-based alignments consistent with current forensic standards. mitoSAVE is formatted for human mitochondrial genome; however, it can easily be adapted to support other reasonably small genomes.

Original languageEnglish
Pages (from-to)122-125
Number of pages4
JournalForensic Science International: Genetics
Volume12
DOIs
StatePublished - Sep 2014

Keywords

  • Bioinformatics
  • Forensic nomenclature
  • Massively Parallel Sequencing (MPS)
  • Mitochondrial genome (mtGenome)
  • Mitochondrial haplotype
  • Variant Call Format (VCF) file

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