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Golden Helix Newsletter

 
Secondary Analysis 2.0 | Part 1
Secondary Analysis 2.0 – Part V
by Andreas Scherer
President & CEO


In this blog series, I discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNVs) and copy number variations (CNVs) in one test leveraging next-gen sequencing. In Part I, we reviewed genetic variation in humans and looked at the key components of a systems architecture supporting this kind of analysis. Part II reviews how algorithms such as GATK are leveraged to call single nucleotide variations. Part III will give you an overview of some of the design principles of a CNV analytics framework for next-gen sequencing data. Part IV shows some examples of how a CNV caller identifies CNVs. Finally, Part V shows what an integrated clinical workflow looks like... Continue Reading

Frequently Asked Questions on CNV Analysis in VarSeq
Top 10 Posts for Understanding Clinical Annotation of Genomic Variants
by Gabe Rudy
VP of Product & Engineering


The VarSeq clinical platform is built on a strong foundation of data curation and annotation algorithms to ensure the variants identified have all the information required to make the correct clinical assessments.

It’s easy to make light of “variant annotation”, but the details run very deep into the roots of how we represent genomic data, how public data is aggregated, stored and retrieved, and how the molecular biology changes with human variation in the genome.

Here are the top 10 blog posts to read if you’re interested in mastering clinical grade genomic variant annotation... Continue Reading »

UCLA Health Diagnoses Long Running Medical Mystery
UCLA Health Diagnoses Long Running Medical Mystery
by Delaina Hawkins
Content Marketing Manager


We don’t just like hearing what our clients are up to … we love bragging about them as well! This week we’re showcasing Dr. Stanley Nelson, and his team at UCLA Health, who used next-generation sequencing and our VarSeq software to help diagnose a child’s long running medical mystery.

Audrey Lapidus knew there was something wrong her son, Calvin, since he was a baby. It seemed like it didn’t matter how many different specialists she went through, or how many different tests Calvin went through, they were always left without a diagnosis. But, they didn’t lose hope and connected with Dr. Stanley Nelson in hopes of ending Calvin’s medical mystery... Continue Reading »

GWAS Workflows
GWAS Workflows with SVS Webcast Q & A
by Delaina Hawkins
Content Marketing Manager


In case you missed our live event yesterday, I wanted to share a link to the webcast recording: New Enhancements: GWAS Workflows with SVS. There were several questions asked, so we’ve also shared the Q & A session below!

Question: Are these enhancements priced as a separate feature?

Answer: No, SVS is a constantly evolving platform, so everything you see in this webcast is based on the standard SVS package with the sole exception of the genotype imputation capabilities. That is generally run on a server, due to big data analytics to be able to compute haplotype across tens of thousands of samples, etc... Continue Reading »
 
   CEO Corner
Andreas Scherer
This summer has been incredibly busy for us from working with new and existing clients to updating the look and feel of our website. Our product pages were the main focus, and more specifically making it easier to find relevant content. Take a look for yourself and let us know what you think! On a personal note, I’m ending the summer with the release of my newest eBook, “Secondary Analysis 2.0”. The eBook explains the concepts behind our secondary analysis solution that covers SNVs and CNVs. I hope you will find it to be an interesting read with a lot of practical examples. This will be officially announced early next week so stay tuned!

  Latest Webcast

New Enhancements: GWAS Workflows with SVS


In this webcast we focus on the recent improvements to our research product SNP & Variation Suite. Over the past 12 months, we have continued to expand on the tools SVS provides to the researcher doing association studies, whether from standard GWAS workflows or complex custom Large-N studies. Based on user requests, we have added features from a couple recent papers and their corresponding method packages to compute heritability estimates, understand the genetic correlation between two traits and improve our GBLUP methods to correct for gene by environmental factors. In this webcast, we review these new additions and how they fit into the existing SVS research platform. Watch here.

   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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