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Golden Helix Newsletter

Secondary Analysis 2.0 eBook
Secondary Analysis 2.0 eBook
by Andreas Scherer
President & CEO

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and MLPA to name a few.

In my latest eBook, Secondary Analysis 2.0, I cover the most important concepts on this topic. Additionally, I give a detailed overview of what an integrated analysis looks like in the practice. If this is a topic that you�re interested in, I encourage you to download a free copy of this eBook!.... Continue Reading

New VarSeq Single Exome Demo Project
New VarSeq Single Exome Demo Project
by Steve Hystad
Field Application Scientist

As VarSeq is quickly becoming the go-to variant analysis software for tertiary analysis, we want to give our readers the opportunity to examine completed projects from start to finish. As an addition to the currently available demonstration projects, we are pleased to provide users with a Single Exome Analysis example project.... Continue Reading »

Annotation Education Series: Clinical Assessment Tracks
Annotation Education Series: Clinical Assessment Tracks
by Darby Kammeraad
Field Application Scientist

Golden Helix provides a large catalog of annotation sources for our research and clinical clientele. Making these public data repositories available to all our users is no easy task. As Cody Sarrazin mentioned in his blog post, annotation curation is a complex data science pipeline. This process aggregates data from many disparate sources and normalizes it into one harmonious library so users can quickly annotate their genomic datasets. With the final product, you have all genomic data from all these disparate sources for no additional cost. Our efforts in data curation save you all the hard work of having to do it yourself. We have licensed users who don�t even access our software but instead just want access to our curated annotations! ... Continue Reading »

Sentieon�s Secondary Analysis Tools Explained
Sentieon�s Secondary Analysis Tools Explained
by Delaina Hawkins
Content Marketing Manager

We find ourselves talking a lot about our partnership with Sentieon � and more specifically, extolling the powerful, comprehensive genomic data analysis solution we are now able to offer clients. Sentieon�s suite of secondary analysis tools made a significant improvement in runtime over BWA-MEM, GATK, Mutect, and MuTect2 while providing deterministic and identical results. Here are two fantastic white papers that cover the improvements Sentieon�s suite provides in more detail:... Continue Reading »
   CEO Corner
Andreas Scherer
We have been working incredibly hard these past couple of months to round out our CNV capabilities. And, our hard work is about to pay off! In the upcoming release of VarSeq we will give our customers the ability to annotate CNVs with public annotation sources such as ExAC and ClinVar. We will also begin to support customer assessment catalogs for CNVs. We will be showcasing these new capabilities, along with many other things, at ASHG 2017. We'd be delighted to meet you there - if you will be attending the conference, make sure to stop by booth #902!

  Latest Webcast

Comprehensive Clinical Workflows for Copy Number Variants in VarSeq

While Copy Number Variants are important to detect and interpret in many clinical genetic tests, labs have been without a comprehensive solution that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants.

Golden Helix has developed and validated with our clinical partners a specialized NGS-based CNV caller capable of detecting deletion and duplication events as small as single-exons and as large as whole chromosome aneuploidy events. Watch the webcast here.

Register for our upcoming webcast VS-CNV Annotations from the User's Perspective!

   Customer Success
Our clients have published a number of interesting articles this month, and as always we wanted to share the highlights. Check out of few of our favorites below and our full list of client publications!
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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