OmniTier announced today that its CompStor® family now supports mitochondrial analysis in both its secondary and tertiary analysis appliances.
Accurate identification of the mitochondrial genome and its translocations into the nuclear genome are key requirements for researchers and clinicians seeking to improve their understanding of mitochondrial dysfunction.
CompStor Novos® now generates small-variant identification that is compatible with GATK’s best-practices for mitochondrial variants. Variant calling on the mitochondrial genome must overcome additional challenges that are not present in standard nuclear genome analysis. Because mitochondrial DNA is circular, standard linear analysis produces errors at the ostensible extremities of the mitochondrial sequence. In addition, the number of types of mitochondrial DNA that may be present in a single sample is not simply bounded. CompStor Novos® handles these challenges optimally, producing accurate identification of multi-plasmic variants even at the reference extremities.
Uniquely, CompStor Novos® also identifies structural variants (SVs) in the nuclear genome which have been copied at some point in time from the mitochondrial genome. These nuclear mitochondrial SVs (NuMTs) may modulate the action of mitochondrial genes and therefore can play an important part of any modern mitochondrial study. CompStor Novos® typically identifies 10-30 NuMTs in a sample; the vast majority of these NuMTs (> 80%) are not detected by any alternative, generally available SV pipeline.
CompStor Insight™, OmniTier’s tertiary analysis appliance, has been expanded to include annotation and interpretation of known mitochondrial variants which are associated with various levels of plasmy and population frequency, according to several industry-standard databases. Exclusive mitochondrial DNA visualization technology within CompStor InsightTM gives researchers a complete summary of small-variant plasmy and population frequency at a single glance.
Fig 1: Visualization of CompStor’s mitochondrial analysis of HG002
About Mitochondrial DNA analysis
Circular mitochondrial DNA (mtDNA) chromosomes, inherited maternally, nominally contain 16,569 base pairs. mtDNA interests researchers and clinical scientists not only for tracing matrilineal phylogeny, but because it exhibits a higher mutation rate than nuclear DNA. mtDNA mutations have been associated with diverse forms of human disease and aging and may predispose individuals to Alzheimer's disease and Parkinson's disease.
Mitochondrial variant identification, annotation and interpretation will be included at no additional charge for new CompStor® customers, and for those customers on support and maintenance.
About CompStor Novos®
CompStor Novos® is a high throughput, low cost, integrated, easy to use, genomics secondary analysis appliance supporting Illumina, PacBio and BGI sequencers. Delivering complete, end-to-end, WGS and WES secondary analysis pipelines, CompStor Novos® includes both alignment and de novo assembly for genome reconstruction.
About CompStor InsightTM
CompStor InsightTM is the first tertiary analysis appliance on the market and enables faster time-to-results, and low variant interpretation per-subject cost. With an easy set up and straightforward web browser interface, scientific teams can collaborate and take advantage of push-button workflows for annotation, filtering, visualization and querying of variant data.
OmniTier develops AI and multiomics appliances and software for bioinformaticians and clinical researchers that deliver affordable analysis solutions. Its integrated appliance solutions accelerate data-intensive genomic workflows and analysis utilizing machine learning and AI. Founded in February 2015, the company has R&D operations in Milpitas, CA and Rochester, MN.
CompStor® appliances are for research purposes only. CompStor Novos®, CompStor InsightTM and CompStor® are trademarks of OmniTier, Inc.
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