Golden Helix Newsletter

ASHG 2015
Reflection on ASHG 2015
by Andreas Scherer,
President & CEO

ASHG 2015 in Baltimore was a very good conference for us at Golden Helix. It was a delight to connect with existing clients as well as interested members of our community. The conference is a premium networking opportunity for professionals in our field, with an ever increasing number of talks, demos and a constantly expanding vendor exhibition area.

The elephant in the room: Where do we stand with the U.S. Precision Medicine Initiative?
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Summer Savings
VSReports Introductory Pricing Ending!

Through the end of October, we are offering introductory pricing on VSReports. Our introductory pricing includes a 25% discount as well as a 15 month license (rather than our customary 12 month license) which essentially represents another 25% price reduction! This will be the very best pricing we will offer for VSReports, so don't miss out! Email us today at or fill out a pricing request on our website at the link below to secure your introductory pricing before it's too late!
Secure VSReports Pricing! »

VSReports: Highlights from Gabe Rudy's Webcast
by Cheryl Rogers,
Director of Marketing

Yesterday, our VP of Product and Engineering, Gabe Rudy, presented VSReports to the Golden Helix community for the first time in a live webcast; Authoring Clinical Reports in VarSeq. It was an excellent presentation. Gabe highlighted VSReports' ability to take the output of tertiary analysis to a customized clinical grade report in one click. He also gave an overview of how our customers implement VarSeq in clinical testing workflows as well as recent updates to VarSeq.

Here are a few of the key takeaways:
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GxE Mixed-Model Analysis Added by Popular Request in SVS
by Greta Linse Peterson,
Director of Services

After our announcement in August that we would be making GxE Regression available in SVS, we were pleased to receive feedback that this was exactly what our customers had been wanting. Being able to account for environmental effects or gene effects as interacting with the SNPs was essential to those researchers working with GWAS. Unfortunately, this did not help our customers who were also working with related samples and known environmental interactions that needed to be tested. So, we were asked to add GxE interaction terms into Mixed-Model Analysis.
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Add-on Scripts
Top Five Add-On Scripts for SVS
by Ashley Hintz,
Field Application Scientist

While stand-alone SVS is an amazing statistical software package for genomics analysis, adding additional Python scripts to the program can expand SVS's genomic analysis capabilities. In this post, I'll take you through the most frequently downloaded Add-On Scripts for SVS and the top five were not what I expected!

Coming in at Number Five is the script Convert Dosages to Genotypes. This script converts allelic dosage values to genotypes based on user-specified thresholds.
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Analyzing a Single Sample Exome in VarSeq
by Ashley Hintz,
Field Application Scientist

While VarSeq comes with a number of starter workflows that are stored as templates, customers also have the option of creating filter chains from scratch; analyzing a single exome may require you to do exactly that. In this blog, I'll go through analyzing a single exome and generating a list of variants for further study.
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   CEO Corner
Andreas Scherer
Earlier this month, we had the opportunity to showcase VSReports at ASHG in Baltimore. For me personally, it was great to speak to existing clients and prospects. In these conversations, we confirmed that VSReports streamlines the generation of clinical reports significantly. It makes a tedious task very simple, saving time and reducing potential errors. We are delighted with the success of our new product and we encourage you to take a look at our October offer.

   Latest Webcast
SETBP1 as a novel candidate gene for neurodevelopmental disorders of speech and language
The genetic etiology of neurodevelopmental disorders has proven elusive due to the substantial phenotypic and etiological heterogeneity of their common forms. Developmental language disorders affect approximately 7% of children and are associated with negative outcomes in a multitude of domains, including social, emotional, behavioral, and academic functioning. Yet, with the exception of several reported monogenic cases, they are severely understudied with respect to their genetic bases, as the field is effectively only entering its 'GWAS era'.

One of the possible solutions is to reduce the supposed phenotypic and locus heterogeneity by studying special populations such as genetic isolates. Taking this approach, Dr. Sergey Kornilov and Dr. Elena Grigorenko's team at Yale University performed a genome-wide association and whole exome sequencing study of members of a unique geographic Russian-speaking isolate, characterized by an unusually high prevalence (i.e., around 30%) of neurodevelopmental disorders of speech and language.

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   Customer Success

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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and clinical and translational medicine for over 16 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With our solutions, hundreds of the world's top pharmaceutical, clinical laboratories, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for precision medicine. Golden Helix products and services have been cited in over 900 peer-reviewed publications.