Clinical OMICS

MAR-APR 2018

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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Data & Informatics 32 Clinical OMICs March/April 2018 GenomeNext's Olympus Integrates Results from Genomenon's Mastermind GenomeNext has embedded within its Olympus genomic-analysis platform results from Genomenon's Mastermind Genomic Search Engine. The partnership is aimed at simplifying and accelerating variant cura- tion for genomic analysis, thus streamlining automation of genomic analysis and inter- pretation, the companies said. Mastermind searches clinically relevant journals by narrowing the 30 million-plus articles listed in PubMed to articles with genomic content in the title or abstracts, then indexes the full text of those articles. According to Genomenon, Mastermind is the world's first search engine to connect genomic data from patients with evidence retrieved from scientific literature. Through the collaboration, scientific ref- erences for each variant, identified across full-text publications and abstracts, and a direct link to the search results in Master- mind, have been integrated and automat- ed within Olympus. "Literature curation has been the biggest bottleneck in the clinical NGS pipeline. Ge- nomeNext is tackling that bottleneck by integrating literature curation directly in the Olympus Platform," Genomenon CEO Mike Klein said in a statement. "Combining Mas- termind's proprietary technology with the differentiating bioinformatics and data-man- agement capabilities offered by Genome- Next's Olympus platform, delivers a powerful suite of capabilities to accelerate the imple- mentation of genomic medicine. n nership with the U.K. government and other as-yet-undisclosed public and private organizations. GSK said its funding would support the part- nership's sequencing of all 500,000 exomes in the UK Biobank—as well as GSK's Open Targets collaboration with the European Bioinformatics Institute (EBI), the Wellcome Trust Sanger Institute, Biogen, and Takeda Pharmaceutical. Open Targets part- ners have committed to systematically identifying and prioritizing targets for new treatments. GSK spokeswoman Mary Anne Rhyne said the company has not commented on why it opted for the U.K. partnership and not the Regen- eron-led consortium, except to say it is pleased the latter project will pro- ceed to sequence all 500,000 Biobank samples. Builds on Geisinger Collaboration Regeneron announced its new sequencing initiative in January at the J.P. Morgan 36th Annual Healthcare Conference in San Francisco. "I think this is a great statement that the life sciences industry is coming together and stepping up to give something back, making a great contribution to the world that's going to help society, while also accelerating our own indi- vidual efforts to come up with new drug targets and new medicines," George D. Yancopoulos, M.D., Ph.D., Regeneron's president and CSO, told conference attendees. Minutes later, addressing analysts at a "breakout" session following the presentation, Yancopoulos said the Biobank sequencing consortium will follow Regeneron's model of cou- pling sequencing and health/medical data as practiced in the biotech's more than three-year-old collaboration with Geisinger Health System. Geisinger serves more than 3 million patients, most of them in Pennsylvania. "At Geisinger, we have sequenced just about 100,000 people, and there's probably another tranche of 25,000 or 30,000 samples that we'll be sequenc- ing soon," Baras said. "Our collective aspirations are to now move from the initial goal of 100,000. The next mile- stone will be to get to a quarter of a million." He said the Geisinger collaboration "has delivered tremendously from a scientific standpoint." In May 2017, Regeneron investigators published data in The New England Journal of Medicine identifying individuals who had loss of function mutations for the angiopoietin-like 3 (ANGPTL3) gene from among the 180,000 participants from Geisinger and four other studies. Participants with inactivating muta- tions of ANGPTL3 had significantly reduced risk of coronary artery disease and significantly lower levels of key blood lipids including triglycerides (continued from previous page) Aris Baras, M.D., VP, co-head of the Regeneron Genetics Center chombosan / Getty Images

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