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Golden Helix Newsletter

Secondary Analysis 2.0 | Part 1
Secondary Analysis 2.0 � Part I
by Andreas Scherer
President & CEO

Human genetic variation makes us unique. On average, humans are to 99.9% similar to each other. Understanding in detail what the nature of the difference in our genetic make-up is all about allows us to assess health risks, and eventually enables Precision Medicine as we determine treatment choices. Furthermore, it enables scientists to better understand ancient human migrations. It gives us insights into how certain populations are related to each other. In this blog series, we will focus on the clinically relevant aspects of this topic. Genetic variation occurs for a number of reasons ... Continue Reading

Frequently Asked Questions on CNV Analysis in VarSeq
Frequently Asked Questions: CNV analysis in VarSeq
by Steve Hystad
Field Application Scientist

The support team at Golden Helix is always here to help with your SVS and VarSeq needs. Often, we receive some excellent questions that should be shared with the rest of our users. This blog will answer some common questions we�ve been seeing lately regarding VarSeq CNV. I�ve noticed there is a version 2 of the CNV caller on Targeted Regions Algorithm, how has this changed from version 1 and does this alter my workflow?

Our development team works extremely hard to develop new features and improve existing algorithms. As Gabe Rudy had mentioned in his blog post, we have been benchmarking against CMA validated clinical samples from PreventionGenetics and other external collaborators to improve the sensitivity and precision of the algorithm. The development team rolled these improvements into the latest 1.4.5 CNV target caller to provide excellent CNV calls on exome and gene panel data. Continue Reading »

Top Three Most Popular Case Studies
Top Three Most Popular Case Studies
by Mary Makris
Marketing Manager

We absolutely love case studies because they allow us to check in on our customers work and see how they are using our software. Not only is this useful feedback for our development team, but it is also an excellent way to share user experiences with prospective clients. We wanted to share a few snippets from our most popular case studies in case you haven�t had a chance to check them out!

Benjamin Darbro, MD, PhD at the University of Iowa, uses VarSeq� software for Clinical Testing The Shivanand R. Patil Cytogenetics and Molecular Lab at the University of Iowa has a long history of clinical testing, seeing 45 years of advancements. Today, the lab is mainly focused on oncology, pre and post-natal genetics testing and serves the University of Iowa Hospitals and Clinics as well as the ... Continue Reading »

Annual T-Shirt Design Competition
GHI�s Annual T-Shirt Design Competition
by Delaina Hawkins
Content Marketing Manager

We�re gearing up for ASHG and kicking off our annual T-Shirt Design Competition! This one goes out to all the clever, witty genomic jokesters out there � here�s your chance to cash in on those DNA punchlines you�ve been practicing! Here�s how the T-Shirt Design Competition works ... Continue Reading »
   CEO Corner
Andreas Scherer
Our product development efforts have continued to focus on our CNV calling capability this month. This is an important focus for us to further accommodate our clinical users streamlining the usage of VS-CNV. Along with that, we are developing additional educational material related to this topic. I am currently working on a blog series �Secondary Analysis 2.0� emphasizing the use of our CNV analytics capabilities. If this is something you�re interested in, we are currently running a Secondary Analysis Pricing Campaign to offer our community the complete pipeline at a great price.

  Latest Webcast

An Exploration of Clinical Workflows in VarSeq

In this webcast, we feature several example workflows and helpful features in the VarSeq that can be used in the clinic. We discuss options for conducting a comprehensive gene panel analysis for cancer or hereditary diseases. Then we introduce an example of a single exome workflow that goes from an unfiltered VCF created by a secondary analysis pipeline to a report containing information about interesting variants. Finally, we walk through an example of a trio analysis showcasing a variety of different filter options as well as inheritance patterns. All these workflows will result in a customizable clinical report. Watch here.

P.S. Join our upcoming webcast, August 9th, as we showcase the latest and greatest enhancements to GWAS workflows with SVS!

   Customer Success
This month we're featuring an excellent round of articles our customer�s published citing our SVS software. Check out the snippets below, there may be one in there that peaks your interest!
See our full list of publications here!
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About Golden Helix
Golden Helix� is a global bioinformatics firm founded in 1998. Our largest outside investor is GlaxoSmithKline who invested early on into the company. We develop and sell an industry leading clinical solution that supports the analysis of sequencing data and the creation of clinical reports. Clinicians and researchers worldwide trust our solution. Over all these years we have accumulated a significant customer base conducting business with over 350 organizations globally with thousands of users leveraging our various analytics products. Our customers fall into five categories: Large Hospitals, Genetic Testing Labs, Pharmaceutical companies, major research organizations, and government organizations here in the US and internationally. Our work his referenced in over 1,100 publications such as Science, Nature and Nature Genetics.

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