Affordable Large-Scale DNA Variation Studies For Every DNA Researcher
Product News Sep 25, 2015
In a LIVE webinar event scheduled on October 8, the company will reveal the unique capabilities to improve individual patient results and discover disease specific DNA changes at significantly reduced cost and time to result.
Hans Karten, CEO/CTO of GENALICE explains: “Single sample variant detection is the standard approach to determine DNA changes in an individual patient that may be related to disease. Population Calling, also referred to as ‘Joint Calling’ or ‘Pooled Calling’ by others, is an improved NGS data analysis methodology in which multiple samples from a cohort study are examined in a single variant detection analysis. The aggregate information of all samples is used to improve the sensitivity and precision to detect all DNA changes in a single sample. This means that individual patient’s diagnosis is enhanced using the consensus result of an entire cohort. Population Calling provides a strong context for new biomarker discoveries in research and high confidence diagnosis in clinical application.
Nationwide studies, like the last week announced U.S. National Institutes of Health (NIH) framework, in which a cohort of one million or more Americans is studied, aim to expand the knowledge and practice of precision medicine. In phase III clinical drug development studies, cohort sizes range from 400 to 800 patients. And larger scale cohort studies easily include 5,000 to 10,000 patient samples.
In these and many other cases, Population Calling is considered of high importance, but it also creates a true big data challenge. As a result, to date, Population Calling using existing analysis tools, has been the preserved territory of a select group of large institutes and companies that have extensive knowledge, resources, budget and patience to wait for results.
Jos Lunenberg, GENALICE’ Chief Business Officer, comments: “It is time to make Population Calling available to every single genomics researcher at an unprecedented price point and analysis speed. We are collaborating with the expert teams from deCODE genetics and Mount Sinai Hospital (NYC). In two weeks we will remove the covers in a LIVE online event. We have chosen this date, as it coincides with the American Society of Human Genetics (ASHG) 2015 Annual Meeting in Baltimore (MA, USA), where thousands of genetics researchers are gathering and our team is present with a booth.
Lunenberg continues: “We have an incredible opportunity to advance research and make new medical breakthroughs through improved diagnosis and precision medicine, which tailors disease prevention and treatment to individuals driven by the analysis of their molecular profiles. GENALICE is proud to contribute to this important endeavor.”