Companies Collaborate to Aggressively Reduce the Time and Cost of Variant Interpretation to Further Scale Global Adoption of Whole Genome Sequencing
ANN ARBOR, MI – 04-03-2018 (Press Release Jet) — Genomenon, the leader in genomic data search capabilities and developer of Mastermind is partnering with Veritas, The Genome Company and first company to break the $1k genome barrier, to address the single most critical hurdle to realize the promise of genomic medicine.
While sequencing technology has become less and less expensive and the $1k genome is now a reality, technical advances have also catalyzed an explosion of genomic data. The single most critical hurdle to scale adoption of whole genome sequencing globally, is not the cost of sequencing any more; it is being able to interpret results efficiently at scale driving cost for consumers further down.
Two specific issues are holding back the whole genomic industry: Identification and prioritization of relevant literature to ensure proper variant classification efficiently and at scale; and an efficient way to alert and update variant classifications as new knowledge arises. Genomenon and Veritas are partnering to tackle both of these issues.
As part of this partnership, the two companies:
- Will collaborate to develop the next generation literature prioritization engine through proprietary genomic language processing (GLP), machine learning (ML), and artificial intelligence (AI) tools following the American College of Medical Genetics (ACMG) and Association for Medical Pathology (AMP) variant classification frameworks.
- Veritas will integrate Genomenon’s Mastermind software to its current workflow and interpretation tools.
- The clinical variant science team at Veritas will advise Genomenon’s product development team with ongoing requirements and product refinements.
“Our goal is to empower millions of consumers to access their own genomic information and use it throughout their lives. This will not happen without applying the most advanced machine learning and AI tools to large genomic datasets. We are delighted to partner with Genomenon, to make this happen.” expressed Mirza Cifric, Founder, CEO Veritas Genetics.
Mike Klein, CEO of Genomenon expressed: “Variant classification sits at the center of the genomic revolution. Creating tools and standards requires the best and most experienced minds in the field. We’re excited to be working with the Veritas team at the forefront of personal genomics. We look forward to radically moving the field forward through our collective expertise and variant interpretation tools.”
Dr. Birgit Funke, PhD, FACMG, and VP of Clinical Affairs for Veritas Genetics will join Mark Kiel, MD, PhD, CSO and Founder of Genomenon, Inc. to demonstrate how they are collaborating to accelerate variant interpretation by using the ACMG framework within the Mastermind Genomic Search Engine at the Annual Clinical Genetics Meeting of the American College of Medical Genetics (ACMG) on April 13. For more information, visit acmgmeeting.net.
Genomenon connects patient genomic data with evidence from the scientific literature to diagnose and deliver better patient outcomes. Our web-based Mastermind Genomic Search Engine has indexed the scientific evidence from millions of medical articles, cataloguing the genetic relationships between DNA and human diseases, including cancer. For more information, visit www.genomenon.com.
About Veritas Genetics
Veritas is The Genome Company. We screen the majority of an individual’s DNA through whole genome sequencing and interpretation to provide insights on inherited disease risks, carrier status, drug sensitivities, traits and ancestry. Our mission is to help people understand their genetics and make more informed health and lifestyle decisions with the involvement of their physician and access to skilled genetic counselors. Co-founded in 2014 by George Church and leading scientists from the Personal Genome Project at Harvard Medical School, Veritas operates globally from its offices in the U.S., Europe and China. The company has been recognized twice by MIT Technology Review as one of the 50 Smartest Companies in 2016 and 2017, and by Fast Company as one of the Most Innovative Companies in the World in 2018. For more information, follow @VeritasGenetics on Facebook and Twitter or visit veritasgenetics.com.
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