Clinical OMICS

MAY-JUN 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 13 of 47

12 Clinical OMICs May/June 2017 In the Clinic T echnological advances have led to dramatic decreases in the cost of genetic sequencing, ushering in a genomics revolution that aspires to transform medicine. However, devel- oping 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 tech- nologies 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," com- mented 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 analy- ses. 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 cre- ates 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, sec- ondary analysis platforms, DRAGEN uses a field-programmable gate array (FPGA) processor that facilitates ultra- rapid analysis—without compromis- ing accuracy. This distinctive approach "gives [DRAGEN] an efficiency that is just unachievable in pure software," commented Gavin Stone, vice presi- dent of marketing and development at Edico Genome. Data for Diagnosis Edico Genome and Congenica to Provide All-in-One Clinical Decision Support Package By Meghaan Ferreira, Contributing Editor make_photo / Getty Images

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