Navigation Links
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

Read the full story at

Source: PRWeb
Copyright©2012 Vocus, Inc.
All rights reserved

Related biology technology :

1. Meaningful Use Stage Two: The Advisory Board Company Helps Hospitals Set Strategy
2. Netsmart Clients to Receive Nearly $2 Million in Meaningful Use EHR Incentive Payments
3. Tackling the European market of nanoimprint lithography
4. GenScript Announces Collaboration with AMDeC: Seeks to Decrease Biological Research Costs at NYC Area Institutions
5. Three Hertz Foundation Fellows Receive Presidential Honors; Leaders in Applied Physical, Biological and Engineering Sciences
6. Society of Biological Psychiatry and Elsevier Renew Publishing Agreement
7. PhoenixSongs Biologicals, Inc. Announces Enhanced Neural Lineage-specific Cell Culture Media Products Release
8. "Biological Control Industry Overview: Companies & Products" Edition 2 is Here. Critical information for Understanding the Global Biopesticide/Biocontrol Market
9. Biodetection 2012 Conference Brings Together Leading Organizations from Around the World to Address Challenges & Technology Advances in Detection and Identification of Biological Threats in Washington, DC from June 28-29, 2012
10. Scientists develop tools to make more complex biological machines from yeast
11. Chemring Detection Systems Awarded $9M for Biological Detection Systems
Post Your Comments:
(Date:11/24/2015)... ... November 24, 2015 , ... InSphero AG, the leading supplier of ... has promoted Melanie Aregger to serve as Chief Operating Officer. , Having ... management team and was promoted to Head of InSphero Diagnostics in 2014. ...
(Date:11/24/2015)... 24, 2015 HemoShear Therapeutics, LLC, a ... for metabolic disorders, announced today the appointment of ... of Directors (BOD). Mr. Watkins is the former ... Sciences (HGS), and also served as the chairman ... Powers , Chairman and CEO of HemoShear Therapeutics. ...
(Date:11/24/2015)... YORK , Nov. 24, 2015 According to ... than in 2005. This is something that many doctors, scientists, ... time. One questions remains: with fewer PSA tests being done, ... ? Dr. David Samadi, "Despite the ... the disease remains the second leading cancer cause of death ...
(Date:11/23/2015)... ... November 23, 2015 , ... ... development of its Nexera UC Unified Chromatography system. The award from R&D magazine ... new products of the year in the analytical and testing category. R&D Magazine ...
Breaking Biology Technology:
(Date:11/4/2015)... November 4, 2015 --> ... report published by Transparency Market Research "Home Security Solutions Market ... Forecast 2015 - 2022", the global home security solutions market is ... by 2022. The market is estimated to expand at ... 2015 to 2022. Rising security needs among customers at ...
(Date:10/29/2015)...  The J. Craig Venter Institute (JCVI) policy group ... Biosecurity: Lessons Learned and Options for the Future," which ... Services guidance for synthetic biology providers has worked since ... --> --> Synthetic biology promises great ... pose unique biosecurity threats. It now is easier than ...
(Date:10/29/2015)... 29, 2015  Connected health pioneer, Joseph C. ... of technology-enabled health and wellness, and the business opportunities ... The Internet of Healthy Things . Long ... even existed, Dr. Kvedar, vice president, Connected Health, Partners ... delivery, moving care from the hospital or doctor,s office ...
Breaking Biology News(10 mins):