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Golden Helix Newsletter
SVS 8.8.2 Release
SVS 8.8.2 Release
by Cody Sarrazin, Ph.D
Product Quality Scientist

The SVS 8.8.2 release was created to incorporate some of the CNV, genome assembly control, and splice site capabilities that are present in VarSeq, as well as clean up and streamline the GWAS workflows (like when using Mixed Linear Model algorithms) for a better user experience. New Product Add-Ons for SVS GoldenHelix SVS now includes in-silico splice site, functional prediction...
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End of Year Bundles 2018
End of Year Bundles 2018
by Delaina Hawkins
Director of Marketing & Business Development

We took our most popular software packages, doubled the number of bundles we usually offer, and then went on a price slashing frenzy! With a little something for everyone at the lowest price of the year, this is the time to implement a Golden Helix solution. As you will notice below, each of our bundles are limited. Meaning, if you�re interested in...
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VSClinical Best Practice Workflows: 3-Part Series
VSClinical Best Practice Workflows: 3-Part Series
by Eli Sward, Ph.D
Field Application Scientist

VSClinical is our most recent product that allows users to evaluate variants according to the ACMG guidelines. As with any tertiary analysis, there is a need to implement best practices into your workflow and using VSClinical for the ACMG guidelines is no exception. That said, we have put together a Best Practices Blog Series, with the purpose of discussing some...
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   CEO Corner
Andreas Scherer
A new version of SVS was released this month which marks another advancement in our overall CNV analytics capabilities. We embedded the whole-genome CNV caller in SVS. Now, our customers are able to conduct Large-N case-control studies leveraging CNV calls across a large number of samples based on gene panel, clinical exome, and whole genome data. In addition to that, we significantly improved our GWAS capabilities. We also added a new SVS based product, SVS-CVS, to the mix. SVS-CVS provides many clinically relevant annotation sources such as splice site algorithms and conservation scores utilized within research workflows. Lastly, we added COSMIC as a commercial annotation source. This release is a powerful enhancement of SVS' analytics capabilities. Please check out our release notes and feel free to reach out to us for more questions. We are looking forward to the final month of the year. I hope you all have a great December!
  Upcoming Webcast
CNV, GWAS & Clinical Analysis Advancements in SVS

December 5th, 12:00 pm Eastern

Save Your Seat

Copy number variation (CNV) can be drivers in many genetic diseases and can be called using our clinical and research application platforms: VarSeq and SVS, respectively. Using these platforms, CNV are called using the existing coverage data stored in your BAM files and are detected using a targeted or binned region approach. As the targeted approach has been demonstrated in previous webcasts, we wanted to focus on the binned region approach that is implemented for detecting CNV from shallow... Learn more 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 400 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 1,300 publications such as Science, Nature and Nature Genetics.

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