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Golden Helix Newsletter
VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs
End of Year Pricing Bundles Are Back
by Delaina Hawkins
Content Marketing Manager

In case you haven�t heard the big news � our end of year bundles are back by popular demand! There�s a little something for everyone so if you�ve had your eye on one of our products now is the time to buy! Wouldn�t it be great to be able to easily perform complex analyses and visualizations on genomic data and phenotypic data? Our SVS Single-User License is loaded with CADD & OMIM which gives you access to a broad set of methods that are useful to conduct your research with publication-ready graphics... Continue Reading

End of Year Bundles
VSWarehouse Updates with the Power of VarSeq 1.4.7
by Gabe Rudy
VP of Product & Engineering

With the recent release of VarSeq 1.4.7, we have expanded the concepts of our popular assessment catalog to include CNV and other region-based records and not just variants. To match these capabilities, we have made a major update to VSWarehouse that supports these new record types in the centrally hosted and versioned Catalogs and Reports. VSWarehouse has three major resources that can be shared and managed on a single server: Projects, Reports, and Catalogs. Projects are the fully merged and annotated repository of every variant you sequence. This allows you to build up your own internal variant frequency annotations based on your laboratory samples, potentially broken down by different groups or cohorts... Continue Reading �

Annotation Education Series: CNV Annotations
Annotation Education Series: CNV Annotations
by Darby Kammeraad
Field Application Scientist

In this final chapter of the annotation blog series, we are going to provide descriptions of the new CNV annotations and how they can be used. The types of CNV annotations vary and include frequency, clinical assessment, and research evidence tracks. A possible first step in any variant analysis may be to capture those rarely found in the population. With the recent upgrade to VarSeq 1.4.7, users gain access to some new great features. Among the additions are new CNV annotations... Copy number variants in 1kG Phase3 CNVs and Large Variants (>45,000 variants) are collected from the same 2504 samples used for the variant frequency annotation. It contains descriptions of CNVs, allele frequencies, allele counts, heterozygous and homozygous counts in total and for each population. When loading 1kG CNVs into your VarSeq project, you�ll see two sources in the CNV table (Figure 2); Summary of CNVs and Overlapping CNVs. Continue Reading �
   CEO Corner
Andreas Scherer
It was a true pleasure to be able to represent Golden Helix at APCHG 2017. I personally enjoyed meeting many of our clients from Thailand, Singapore, Vietnam, Korea, Australia, and other countries in-person for the first time. Back in the office, we are gearing up for our big end of the year push. All I can say for now is you can expect Golden Helix to ring in the new year with a bang! We will be introducing a number of announcements and updates to our product line. As always, I will outline what's ahead for Golden Helix in more detail early January, so stay tuned!
  Upcoming Webcast

Genomic Prediction Methods in SVS

December 13, 2017 | 12:00 PM EDT

The Golden Helix SNP and Variation Suite (SVS) offers three methods for genomic prediction: Bayes C, Bayes C-pi and Genomic Best Linear Unbiased Predictors (GBLUP). This webcast will discuss the principles of genomic prediction. It describes how these methods are applied within SVS predicting phenotypes for both plant and animal species. In addition, we show how k-fold cross-validation can be utilized optimizing predictive models. Register for the webcast here..
   Customer Success
We'd like to congraulate a number of our clients on their recent publications. To name a few: You can find our entire list of publications citing Golden Helix software 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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