Tackling the NGS Interpretation Challenge
NGS panels, exomes, whole genomes and microarrays enable clinical genetics labs to improve the diagnostic yield and throughput to provide timely answers to referrers.
To ensure clinical variant assessment happens at the highest possible standard, clinical geneticists need to have access to up-to-date knowledge bases, tools to reliably filter large numbers of variants down to relevant findings, review them against multiple inheritance hypotheses, patient phenotype, and state-of-the-art community content and knowledge – all within a traceable, clinical-grade software platform.
This webinar will illustrate Cartagenia Bench Lab’s capabilities through a demonstration of a family analysis containing a proband with an inherited mitochondrial disease and the unaffected parents and sibling.
Join us to find out more on September 29 2016, 9am PDT (11am CDT, 12pm EDT, 5pm BST) for “Tackling the NGS interpretation challenge” in partnership with Cartagenia, a part of Agilent Technologies.
Who is the speaker?
Field Application Specialist, Clinical Applications Division, Agilent Technologies
Elizabeth Ewen is a Field Application Scientist for Agilent’s Clinical Applications Division (CAD), part of the Diagnostics and Genomics Group. Over the past several years she has helped CAD customers test, validate and optimize CNV and NGS workflows. Elizabeth received her Ph.D. from Boston University in the department of Biology, where she studied heart development in mice. She has also worked in cytogenetics labs under Drs. Dorothy Warburton, Cynthia Morton, and Nancy Spinner.
Cartagenia Bench Lab is marketed in the USA as exempt Class I Medical Device and in Europe and Canada as a Class I Medical Device.
By registering for this event you agree to being contacted by Front Line Genomics with other news and webinars – you can unsubscribe from these emails. You also agree that the sponsor may contact you afterwards.