Technological advances have led to dramatic decreases in the cost of genetic sequencing, ushering in a genomics revolution that aspires to transform medicine. However, developing solutions that can effectively, efficiently, and affordably translate these advances to a clinical setting remains challenging, which is why two genomics companies, Congenica and Edico Genome, have partnered to offer their complementary technologies as an all-in-one solution for data analysis, interpretation, and reporting.
“Both companies are very much driven to deliver these joint solutions in a clinical diagnostic setting,” commented Congenica’s Chief Business Officer, Shikha O’Brien, Ph.D., on the companies’ mutual commitment to bringing genomics-based medicine to fruition through their individual technologies.
Congenica’s cloud-based software platform, Sapientia, enables clinical geneticists to analyze and interpret the gamut of next-generation sequencing data and generate a comprehensive diagnostic report to support clinical decision-making.
The knowledge base underlying Sapientia aggregates data from its users and places it into a knowledge base that can inform future analyses. However, according to O’Brien, “[Sapientia’s] beauty is that it brings all of the information required for variant interpretation together in a single, dynamic interface. All of this information being held together creates an accurate and in depth audit trail to really support the work of our clinical colleagues.”
Referred to as “secondary analysis,” Edico Genome’s hardware-accelerated platform, DRAGEN (Dynamic Read Analysis for Genomics), analyzes raw-read data from sequencing instruments, identifies variants, and outputs a VCF (Variant Call Format) file that Sapientia and other downstream software reads. Unlike other, software-based, secondary analysis platforms, DRAGEN uses a field-programmable gate array (FPGA) processor that facilitates ultra-rapid analysis—without compromising accuracy. This distinctive approach “gives [DRAGEN] an efficiency that is just unachievable in pure software,” commented Gavin Stone, vice president of marketing and development at Edico Genome.
Read more at GENengnews.com.