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
Downloads
Similar Publications
- A memory-efficient algorithm to obtain splicing graphs and de novo expression estimates from de Bruijn graphs of RNA-Seq data
- More than just heat: Ambient ionization mass spectrometry for determination of the species of origin of processed commercial products-application to psychoactive pepper supplements
- GC-MS Analysis of Acylated Derivatives of The Side Chain and Ring Regioisomers of Methylenedioxymethamphetamine