title: mitoSAVE: mitochondrial sequence analysis of variants in Excel.
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.
authors: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA. Electronic address: Jonathan.King@unthsc.edu.
authors: Jonathan L
authors: JL
authors: King
authors: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA; Department of Forensic Medicine, Hjelt Institute, P.O. Box 40, 00014 University of Helsinki, Helsinki, Finland.
authors: Antti
authors: A
authors: Sajantila
authors: Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA; Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
authors: Bruce
authors: B
authors: Budowle
mesh_terms: D054629:Genome, Mitochondrial; D006239:Haplotypes; D006801:Humans; D012984:Software
keywords: Bioinformatics; Forensic nomenclature; Massively Parallel Sequencing (MPS); Mitochondrial genome (mtGenome); Mitochondrial haplotype; Variant Call Format (VCF) file