Golden Helix Newsletter

Precision Medicine
Clinical Reporting comes to VarSeq
by Andreas Scherer,
President & CEO

The next release of VarSeq will ship a new product that is highly relevant to our customers in clinical testing labs. Via VS Reports, VarSeq® software now has the ability to generate clinical-grade reports. These reports are fully customizable, containing focused and actionable data. VS Reports ships with report templates that are modeled off of the ACMG guidelines, the de-facto gold standard for clinicial reporting.
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Summer Savings
Free Precision Medicine e-Book

"It's far more important to know what person the disease has than what disease the person has." � Hippocrates (460 BC � 370 BC)

Almost 2,500 years ago, Hippocrates captured one of the key principles underlying precision medicine. In the 21st century we take the understanding of the individual characteristics of a person to a new level. By leveraging information about an individual's genome we are able to increase the effectiveness of medical treatments. The goal is to have more successful outcomes by providing targeted therapies.
Precision Medicine

Introducing VarSeq Viewer!
by Cheryl Rogers,
Director of Marketing

With our latest release of VarSeq last Thursday, we are proud to offer the VarSeq Viewer to the community, for free! When you download VarSeq Viewer, you can explore pre-built projects to interact with the annotations and filters the project provides, visualize selected variants with pile-ups, and export data to widely used formats. To get you started, we have included a TruSight Cardio Gene Panel project.

The best part? Getting started is EASY!

OMIM Coming to VarSeq
by Gabe Rudy,
VP of Product & Engineering

When it comes to down to it, the genomic variants we collect in a research and clinical setting are impossible to interpret without that important link of how genes are related to phenotypes.

Indisputably, the Johns Hopkins project to catalog all evidence related to inheritable Mendelian diseases is our best repository of this evidence. Online Mendelian Inheritance in Man (OMIM) was founded in the '60s by the pioneering geneticist Dr. Vic McKusick at Johns Hopkins with the bold aim to be a full-text, comprehensive reference of all scientific evidence on the relationship between phenotype and genotype. Continue reading »

Between Two Bases: Coordinate Representations for Describing Variants
by Gabe Rudy,
VP of Product & Engineering

Have you ever scratched your head when looking up a variant and it seems like the number you have for its position is one off from what it looks like in the file or database? You may be running into the dreaded world of 1-based versus 0-based coordinate representation! If it's any consolation, I can promise that all the bioinformaticians and computer scientist who are responsible for building those databases and defining those file formats have also probably scratched their head staring at a similar disparity.
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GxE Regression Option to be Available in SVS
by Greta Linse Peterson,
Director of Product Management & Quality

We are pleased to announce that another one of the most asked for features is going to be a part of our SNP & Variation Suite� software, Gene by Environment Interaction Regression (also known as GxE Regression). Earlier this year other highly asked for features were added to SVS including applying a prediction model to a new dataset, cross-validation for genomic prediction, and meta-analysis. It is safe to say that our customer requests have been instrumental in driving development this year!

Before this latest update, Numeric Regression was already a powerful workhorse, including full versus reduced model regression, moving window regression and step-wise regression.
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   CEO Corner
Andreas Scherer
This September we are excited to announce yet another addition to our VarSeq software, VSReports. VS Reports is a clinical reporting product that provides the ability to generate clinical-grade reports that are completely customizable. In addition, the OMIM annotation source will be deeply integrated into VSReports. This a major advance for our clinical users who will be able convert the output of their tertiary analysis into a customized clinical report in one click.

   Latest Webcast
Authoring Clinical Reports in VarSeq
As labs move genetic tests into production using VarSeq, we have been looking for ways to support more of their total workflow within the same integrated expertise used to annotate, filter and interpret variants. With our upcoming release of VarSeq, we are introducing a powerful and flexible platform to author clinical reports, specialized to the needs of individual labs and tests.

This webcast shows the new VarSeq Reports add-on feature, as well as other components of the total clinical test workflow.

View recording »

   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.