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mitoSAVE: Mitochondrial Sequence Analysis of Variants in Excel

NCJ Number
Forensic Science International Genetics Volume: 12 Dated: September 2014 Pages: 122-125
Date Published
June 2014
4 pages
This article profiles the features and functions of mitoSAVE, an Excel-based workbook that accepts Variant Call Format (VCF) files as input, and data within the VCF file are used to develop haplotypes with standardized forensic conventions.

MitoSAVE provides users a tool to analyze mtGenome VCF files in a semi-automated fashion in an expeditious manner. MtGenome contains genetic information amenable to numerous applications, including 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 dataset and potentially whole populations with relative ease; however, the data generated are not easily parsed and interpreted. Recognizing this, mitoSAVE was developed to enable fast conversion of VCF files. It converts data within the VCF into mtDNA haplotypes using phylogenetically established nomenclature as well as rule-based alignments consistent with current forensic standards. Although mitoSAVE is formatted for human mitochondrial genome, it can easily be adapted to support other reasonably small genomes. Materials and methods are described. 1 figure and 39 references

Date Published: June 1, 2014