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Uncovering the Meaning in Your NGS Data: Tackling the Biological Analysis and Interpretation of Sequence Variation

Midland, ON (PRWEB) January 17, 2013

Next generation sequencing has revealed a lot about genetic variations such as single nucleotide polymorphisms (SNPs), single nucleotide variations (SNVs), copy number variations (CNVs), insertions and deletions (indels), inversions and translocations. Information on genetic variations has been used to better understand the inheritance and susceptibility of certain diseases, response to drugs, signaling pathways involved in normal versus disease states and more. However, biological interpretation of thousands of variants is a bottleneck in extracting valuable insights from DNA sequencing studies, often requiring months of effort after completion of the reference genome alignment and variant calling steps. These limitations can largely be overcome by using more sophisticated informatics tools that can help interpret the biology accurately and in more detail.

Topics to be covered:

  •     Recent trends and innovations in NGS data analysis
  •     Current limitations with NGS analysis and interpretation
  •     Best practices for biological interpretation
  •     What factors should be considered when selecting the right bioinformatics solution

The Speaker:

Dr. Hugh Rienhoff is a San Francisco Bay area clinical scientist and entrepreneur. In 1998, he founded DNA Sciences (originally Kiva Genetics), a company focused on genetic discoveries. He is also Director of, an advocacy organization dedicated to understanding the genetics of rare diseases. Dr. Rienhoff is an Adjunct Scientist at the Children’s Hospital Oakland Research Institute and is a Visiting Scholar at the University of California at Berkeley.

To take advantage of this free webinar and experts' advice, click here: Register Now!

Who should attend?

The target audience for this webinar includes scientists in academia or industry in pharmaceutical drug discovery or biomarker research, CROs, laboratory technicians and managers as well as clinicians, who are using or looking to use NGS.


This session is slated for 90 minutes and will be divided into a 60-minute presentation with a 30-minute open forum for a live Q&A, all using the GoToWebinar platform. After the session, all attendees will receive links to the presentation materials posted on

When: Tuesday, January 22, 2013
Where: Live Web Event via GoToWebinar Platform; a link will be provided after free registration at: Register Now!
Time: 12:00p.m. to 1:30 p.m. EDT
Sponsored by: Ingenuity Systems

About The Scientist:
The Scientist has informed and entertained life science professionals around the world for more than 25 years. The title provides innovative print and online coverage of the latest innovations in life science research and industry developments including trends in research, new technology, news, business and careers. We reach leading researchers in academia and industry who are interested in maintaining a broad view of the life sciences by reading insightful articles that are current, concise, accurate, and entertaining. For more information about The Scientist, visit

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