Golden Helix Blog

Don’t miss the VarSeq user experience webcast tomorrow!

Nov 4, 2014

We are shortly approaching the public launch (November 5th!) of our first clinical product, VarSeq. We could not have predicted how well the market would accept VarSeq – but we couldn’t be happier! For those of you who have not yet seen our newest product in action, I invite you to…

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Check out our newest t-shirts!

Oct 30, 2014

As you might recall, we hosted our first annual t-shirt design contest this summer. We announced the winners, but kept the winning t-shirt designs themselves top secret until ASHG where we unveiled them day by day. But, if you did not attend ASHG last week, you are probably still on…

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Final thoughts on ASHG14

Oct 28, 2014

To make a long story short, we had a blast at ASHG14. The traffic at our booth was terrific. Every day we had scheduled presentations on VarSeq, SVS, and GenomeBrowse which were very well attended. And of course, there were our new t-shirts. The new designs were well received. If anything…

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New Plugin for Ion Torrent Server

Oct 21, 2014

Golden Helix is proud to announce the release of the Golden Helix GenomeBrowse Plugin for Ion Torrent server. The new plug-in enables adding selected BAM files from Torrent Server reports directly into GenomeBrowse. The BAM files remain on the torrent server and are streamed from the server on demand using…

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A little known fact about Box Plots

Oct 16, 2014

A helpful tool that is included in SVS, but many of our customers may not know about, is the ability to create Box Plots or box-and-whisker plots. These are effective visualizations for comparing groups of numerical data through the data quartiles. I’ll take you through a couple different cases with…

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Variant Notation: In simplicity we find complexity

Oct 9, 2014

Recently, I have been thinking a lot about Human Genome Variation Society (HGVS) notation — you know “G dot”, “P dot”, and “C dot”. HGVS has quickly become one of the most common ways to represent variants.  It’s no wonder that HGVS nomenclature is used so widely. It provides an…

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ASHG Happenings

Oct 8, 2014

It’s that time of year again. The mornings are chilly, the leaves are falling, and ASHG is right around the corner. This year will mark my very first ASHG and I am really looking forward to meeting some of the Golden Helix community! The team has been hard at work preparing…

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Looking forward to ASHG

Oct 2, 2014

The 64th annual ASHG meeting is coming up in just a few short weeks in San Diego. This year’s event will be an exciting one for Golden Helix as we present VarSeq, with the first demonstration on Sunday at 11:30 am in booth 422. After the demonstration we will have some…

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Entering the Clinical Testing Market with VarSeq

Sep 25, 2014

The adoption of genetic services is key to our ability to provide personalized medicine in the future. The goal is to better diagnose diseases, predict their outcomes, and to choose the best possible care option for a patient. Our part here at Golden Helix is to essentially build the equivalent of…

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Exciting News for ASHG!

Sep 23, 2014

With ASHG only four weeks away, the hype has only continued to grow. The 64th Annual Meeting of the American Society of Human Genetics is shaping up to be one of the best with some amazing abstracts, including one from our very own Greta Linse Peterson. Greta will be presenting…

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Top 3 Most Viewed Tutorials from Golden Helix

Sep 12, 2014

Tutorials are ever-present in the world today, and for good reason. Why struggle through a complicated process yourself, when there is already a guide established to assist? While no one would suggest that a tutorial is the only way to complete a project, it is certainly a nice starting point.…

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Tips and Tricks for Quality Control Metrics

Sep 4, 2014

SVS offers options for performing many different QC functions on genomic data. This blog takes you through some of the most commonly applied filters for various analysis types. Filters for GWAS data vary depending on the type of association tests you are performing. A typical GWAS for a common variant…

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False Positives in Big Data Analytics

Sep 2, 2014

We had a lot to celebrate recently. Last year was the 300th anniversary of Jacob Bernoulli’s Ars Conjectandi. In this book he consolidated central ideas in probability theory, such as the very first version of the law of large numbers. It was also the 250th anniversary of  Bayes theorem named after Thomas Bayes (1701–1761), who first…

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Updates to ClinVar and dbSNPs: Fresh charts for Cromonaughts!

Aug 28, 2014

I’m sitting in the Smithsonian Air and Space Museum basking in the incredible product of human innovation and the hard work of countless engineers. My volunteer tour guide started us off at the Wright brother’s fliers and made a point of saying it was only 65 years from lift off at Kitty…

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Genomic Prediction and How it’s Used

Aug 21, 2014

Golden Helix is excited to host a webinar on Tuesday August 26th discussing the Genomic Prediction methods which were recently integrated into the SVS software. Genomic prediction uses several pieces of information when calculating its results. Genetic information is used to predict the phenotype or trait for the individuals. The phenotypic trait…

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Leveraging SVS for NGS Workflows

Aug 19, 2014

Over the last decade, DNA sequencing has made vast technological improvements. With the cost of sequencing decreasing significantly, sequencing technology has become a product for the masses. The sequencing technology and programs that were once used exclusively by major research institutions are now becoming available in many research facilities around…

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RefSeq Genes: Updated to NCBI Provided Alignments and Why You Care

Aug 14, 2014

You probably haven’t spent much time thinking about how we represent genes in a genomic reference sequence context. And by genes, I really mean transcripts since genes are just a collection of transcripts that produce the same product. But in fact, there is more complexity here than you ever really…

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Runs of Homozygosity Updated

Aug 12, 2014

For the SVS 8.2 release we decided to improve upon the existing ROH feature. The improvements include new parameters to define a run and a new clustering algorithm to aide in finding more stringent clusters of runs. The improvements were motivated by customer comments and a recent research paper by…

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SVS 8.2 – New Capabilities and Features

Aug 7, 2014

Earlier this year we completed the marriage of SVS and GenomeBrowse. When we released Version 8 of SVS we completed a major engineering task. A lot of things under the hood of both products had been changed to create a seamless experience for our users. The new and improved SVS…

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Have you ever had a bad experience with a VCF file?

Aug 5, 2014

“Who has ever had a bad experience with a VCF file?” I like to ask that question to the audience when I present data analysis workshops for Golden Helix. The question invariably draws laughter as many people raise their hands in the affirmative. It seems that just about everybody who…

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