Breakthrough solution for rare disease analysis, genome wide association studies and knowledge database creation
BAY AREA CA, USA: OmniTier Inc. today announced the availability of its enhanced on-premise human genomics analysis appliances, CompStor Novos® and CompStor Insight®. These deliver accelerated end-to-end workflows from targeted gene panels, WES, or WGS sequencer outputs, through sequence alignment or de novo assembly, and variant calling and variant interpretation.
CompStor Insight®, OmniTier’s variant interpretation appliance, provides built in support for high volume rare disease and trio analysis, accelerated genome wide association studies (GWAS) and superior functionality for those looking to create custom knowledge databases from 10,000s of exomes and whole genomes.
In response to customer requests, the latest release of CompStor Insight® variant interpretation adds support for user customizable ACMG1 rankings. This allows users to override automated ACMG classifications for any given variant based upon their own empirical findings and then have the new classification automatically be reused across any other analyses and reports.
A new Case Management capability allows users to organize data into cases, thereby efficiently managing samples, analysis results, and reports. Each case can be controlled by different approval and review options, allowing users to specify case findings and build up knowledge databases of past results, which can be searched through the UI.
Enhanced visualizations, including VCF coverage metrics, trio analysis inheritance mode plots and genotyping plots enable users to make conclusions faster and disregard irrelevant data. Detailed patient report creation more accurately identifies variants of interest that match user-defined phenotype information, despite taking just seconds to run.
With these enhancement in place, a single CompStor Insight® appliance can still process and generate patient reports for over 1,000 individual WES samples per day. New functionality has been added for the automated ingress and processing of VCF data sets, which can remove manual operations, increasing by several times the number of analyses that can be performed by each user. Altogether, CompStor Insight® provides a breakthrough solution for automated variant interpretation of rare diseases, dramatically reducing the cost of downstream analysis and making genomic screening affordable at scale.
CompStor Novos® and CompStor Insight® are designed to be used in high volume, high-capacity genomic analysis applications. OmniTier’s proprietary Memory-Accelerated Compute & Storage (MACS) technology has been modified to enhance further the capacity of CompStor Insight®, which can now process up to 1,000 WGS or 10,000 WES samples per analysis. When analyzing this volume of data, the storage cost becomes a significant portion of the overall analysis cost. By locating all human genomics analysis appliances on-premises or at the edge, rather than in the cloud, customers benefit from up to 75% lower storage costs, as well as keeping complete control over their data privacy and their data security. Data transfer times to and from the cloud when moving hundreds of patient data samples of 80GB each or more can take days, whereas it takes just minutes on a high-speed local network. This is why both security conscious and cost sensitive, high-volume genomics analysis organizations are looking at moving their genomics sequencing and analysis infrastructure back from the cloud, to on-premise or edge locations.
Free evaluations of both CompStor Novos® and CompStor Insight® are available. Please contact OmniTier for more information.
About OmniTier Inc.
OmniTier develops advanced AI and data acceleration technologies, along with proprietary genomics analysis algorithms and workflows. These are incorporated into the company’s high capacity, genomics analysis appliances and solutions for clinical and academic research, population studies, pharmaceutical, and consumer genomics applications. Founded in February 2015, the company is headquartered in the Bay Area, CA.
1 The American College of Medical Genetics and Genomics (ACMG)
CompStor®, CompStor Novos® and CompStor Insight® are registered trademarks of OmniTier, Inc.
CompStor Novos® and CompStor Insight® are for research purposes only.
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