Golden Helix Newsletter

 
What Can Exomes Tell Us About the Pathology of Complex Disorders?
My investigation into my wife's rare autoimmune disease

by Gabe Rudy, Vice President of Product Development

What Can Exomes Tell Us About the Pathology of Complex Disorders
I recently got invited to speak at the plenary session of AGBT about my experience in receiving and interpreting my Direct to Consumer (DTC) exomes. I've touched on this before in my post discussing my own exome and a caution for clinical labs setting up a GATK pipeline based on buggy variants I received in an updated report. But I haven't had a chance to discuss the potentially most interesting member of my exome trio: my wife. While my exome analysis falls squarely in the "narcissisome" camp of investigating a healthy individual with no expectation of finding highly penetrant functional alleles, I have a meaningful and nuanced question to ask of my wife's exome: Can exome data provide a plausible genetic story about the pathology of a complex disorder like autoimmune diseases? Continue reading »

AGBT 2013: Home Brewed Personalized Genomics - The Quest for Meaningful Analysis Results of a 23andMe Exome Pilot Trio of Myself, Wife, and Son
 
AGBT

For the majority of you not fortunate enough to make the trip to Marco Island, Florida for the extravagant Advances in Genome Biotechnology Conference (as most of us weren't), our very own Gabe Rudy gave a scintillating plenary session presentation on his investigation as a "pro-sumer" into his wife's rare autoimmune disease: juvenile idiopathic arthritis. Thankfully, for everyone's benefit, Gabe remembered to push the record button on his iPhone allowing us to share his presentation with you via the web. So in case you didn't see it live or just want to watch it again and again, here you are: Launch YouTube video »

X-GEN SHORT COURSE: Knowing Your Upstream: Comparison of Alignment and Variant Callers Used in Production Pipelines and their Limitations
Presenter: Gabe Rudy, Vice President of Product Development
Date: March 19, 2013 | Location: San Diego, CA


Podcast interview » | About Short Course » | Register for X-Gen »
 
   Upcoming Webcast
Knowing Your NGS Upstream: Alignment and Variants
MAR
27
  Wed, March 27
12:00 pm EDT

Webcast Registration



   Updated SVS Script
Activate Variants by Genotype Count Threshold
Download » | Script repository »


   SNP-ITS
Exome Webcast Resounding Success
Over 400 people registered for Khanh-Nhat Tran-Viet's (Manager/Research Analyst II at Duke University) presentation on March 7th. In this webcast, he demonstrated the ability to maximize Golden Helix tools to find potential pathogenic variants in rare ocular diseases.
View this webcast »


Where will we see you next?
X-Gen Congress & Expo
San Diego, CA  |  Mar 18-20

TCGC Annual Clinical Genome Conference
San Francisco, CA  |  Jun 25-28

IGES
Chicago, IL  |  Sep 15-17



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About Golden Helix
Founded in 1998, Golden Helix is known for helping genetic research groups working with large-scale DNA-sequencing or microarray data overcome the frustration and challenges of bioinformatic roadblocks: delayed projects, lack of quality findings, and low productivity. By empowering researchers with highly effective software tools, world-class support, and an array of complementary analytic services, we refute the notion that analysis has to be difficult or time consuming. Golden Helix's flagship software product, SNP & Variation Suite (SVS), is an integrated collection of powerful data management, quality assurance, visualization, and tertiary analysis tools for genetic data. SVS is delivered in a user-friendly, scalable platform and is supported by a team of highly trained bioinformaticians, statistical geneticists, and computer scientists that together make advanced statistical and bioinformatic methods accessible to scientists of all levels.

 


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