Cheryl Rogers

Check out our newest t-shirts!

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 the edge of your seat.

Well, luckily, I will reveal the winning designs and you can get back to business as usual :-)
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Andreas Scherer

Final thoughts on ASHG14

Stay-Twisted---Mark

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 we promise to bring more next year. In particular more in size s :-)
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Nathan Fortier

New Plugin for Ion Torrent Server

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 your credentials. This feature allows GenomeBrowse users to visualize genomic data stored on the torrent server along a rich library of streamable annotations without downloading large BAM files directly to disk. Continue reading

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Ashley Hintz

A little known fact about Box Plots

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 examples. Continue reading

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Alyssa Burzynski

A new chapter for Golden Helix

In our latest webcast (which introduced our newest product, VarSeq), Dr. Andreas Scherer, President and CEO of Golden Helix, announced the completion of 2 e-Books; one entitled Clinical Next-Gen Sequencing Analysis and one GWAS.

Dr. Scherer published these e-books as part of Golden Helix’s continued effort to provide educational content to our clients and the genetic community as well as to put a spotlight on the common struggles of genetic researchers. Continue reading

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Andrew Jesaitis

Variant Notation: In simplicity we find complexity

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 easily readable, compact representation of a variant. Since it is so prevalent, it’s helpful to take a step back and consider the scenarios where using HGVS nomenclature succeeds and where it fails.

The first version of HGVS was published in 2000 and really preceded the establishment of a human reference sequence. Thus, the nomenclature has the very desirable feature that it can describe variants (in C dot and P dot form) with no knowledge of the reference sequence–only the RNA or amino acid sequence must be known. For some portions of the genome we are lucky enough to have a stable coordinate system called a Locus Reference Genomic (LRG) segment. However, if the variant being examined is outside an LRG the notation is once again implicitly dependent on the reference genome. As I previously wrote, if the transcript is mis-mapped, the C dot notation will be incorrect as well. Continue reading

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Cheryl Rogers

ASHG Happenings

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 for a great conference and I wanted to give you an update with specifics on the Golden Helix events that you won’t want to miss.

First, you will find us in booth 422. Continue reading

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Andreas Scherer

Looking forward to ASHG

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 great VarSeq t-shirts to give away – you will not want to miss it! Continue reading

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Gabe Rudy

VarSeq: Making Variant Discovery and Gene Panels Easy

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Last week, our CEO Andreas Scherer announced our entrance into the clinical testing market with VarSeq. This week, I will be giving a webcast on Wednesday introducing this new tool and demonstrating its capabilities. (Register for the webcast)

VarSeq’s focused purpose is making NGS gene testing and variant discovery efficient, scalable and accessible to users with a broad range of backgrounds and specialties.

In this blog post, we will examine the use cases that VarSeq supports in more detail, but first I want to place this product launch in the context of Golden Helix’s own evolution as well as the adoption of this technology in our industry.

Although VarSeq is entering a market which has existing solutions, Golden Helix’s years of experience gives VarSeq the advantage of the deepest technological roots.

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Andreas Scherer

Entering the Clinical Testing Market with VarSeq

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 an MRI for the genome. In this process the latest research on disorders is combined with our understanding of the best treatment option at any given time.

Next week, on October 1st, we will launch VarSeq in a live webcast.
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