MtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud.

ABSTRACT: Next generation sequencing (NGS) allows investigating mitochondrial DNA (mtDNA) characteristics such as heteroplasmy (i.e. intra-individual sequence variation) to a higher level of detail. While several pipelines for analyzing heteroplasmies exist, issues in usability, accuracy of results and interpreting final data limit their usage. Here we present mtDNA-Server, a scalable web server for the analysis of mtDNA studies of any size with a special focus on usability as well as reliable identification and quantification of heteroplasmic variants. The mtDNA-Server workflow includes parallel read alignment, heteroplasmy detection, artefact or contamination identification, variant annotation as well as several quality control metrics, often neglected in current mtDNA NGS studies. All computation

SUBMITTER: Weissensteiner H 

PROVIDER: S-EPMC4987870 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature