OmniTier Debuts CompStor Novos Platform For De Novo Assembly-Based Variant Calling

By Bio-IT World Staff

December 5, 2018 | OmniTier has debuted the CompStor Novos platform for de novo assembly-based variant calling in whole genome sequencing (WGS) applications. CompStor Novos enables breakthrough runtimes of between 2-6 hours per genome depending upon the number of servers in the cluster - enabling 10 times higher throughput on standard coverage genomes and lowering the per genome assembly costs by over 70% compared to alternative de novo pipelines.

The CompStor Novos will be generally available in mid-February 2019.

With its distributed, scalable compute architecture as implemented on commodity servers, CompStor Novos enables the accurate variant calling needed for higher throughput genomic informatics pipelines at lower cost. More robust and affordable informatics solutions such as CompStor Novos help more institutions leverage next-generation sequencing (NGS) techniques and improve patient well-being through precision medicine.

"Variant calling is an important problem in personalized medicine that is usually addressed by aligning reads to the reference genome, an approach that often misses large structural variations,” Pavel Pevzner, Ronald R. Taylor professor of computer science and director of the NIH Center for Computational Mass Spectrometry at the University of California, San Diego who has published numerous foundational papers on de novo assembly algorithms, said in a press release. “Although an alternative assembly-based approach is better suited for finding such variations, it is still rarely used due to its high computational cost. OmniTier’s CompStor Novos represents an important advancement in enabling de novo assembly-based pipelines.”

New results from a joint study by researchers at Mayo Clinic’s Center for Individualized Medicine and OmniTier show that the CompStor Novos WGS bioinformatics platform effectively addresses both major categories of variants available from a de novo assembly-based approach: it achieves short-variant statistics comparable to the most reliable alignment-based pipeline, the Broad Institute’s BWA-MEM aligner paired with the GATK Haplotype Caller; it also reveals longer variants not found with the alignment method.

Mayo Clinic’s Alexej Abyzov, computational genomicist and biologist, senior associate consultant and assistant professor of biomedical informatics, related in an official statement that “discovering and analyzing structural variants accurately is important yet underserviced by the mainstream alignment-based methods area in personal genomics. OmniTier’s platform provides precise, fast, and efficient means for researchers and clinicians to pursue such discoveries.”