Golden Helix Blog

To Impute, or not to Impute

Feb 5, 2015

Genotype imputation is a statistical technique for estimating sample genotypes at loci that were not directly assayed by sequencing or microarray experiments.  There are several reasons why you might want to use imputation in a research study.  For example: These are all important applications for imputation technology and can make…

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SVS, Population Genetics, and 1000 Genomes Phase 3

Jan 27, 2015

One frequent question I hear from SVS customers is whether whole exome sequence data can be used for principal components analysis (PCA) and other applications in population genetics. The answer is, “yes, but you need to be cautious.” What does cautious mean? Let’s take a look at the 1000 Genomes…

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Final Thoughts on PAGXXIII

Jan 22, 2015

The Plant & Animal Genome XXIII Conference (PAG) was again a success. It’s the venue for leading genetic scientists and researchers involved in plant and animal research to meet with their peers. If anything the event continues to grow. The largest population of registrations tend to be from an Academic…

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Genetic Testing for Cancer

Jan 20, 2015

In 1914 the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time his ideas were equally revolutionary as they were highly contested. Fast forward. More than hundred years later, Next-Generation Sequencing effectively permits a highly sensitive analysis of cancer cells. It can…

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Dr. Andreas Scherer to speak at ITI 2015

Jan 15, 2015

The Integrative Therapies Institute is soon hosting the annual, ITI 2015 conference January 23rd through the 25th in sunny San Diego and our own Dr. Andreas Scherer has been invited to speak. Some of the most prominent genomic and integrative medicine specialists will gather at ITI 2015 to share case…

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What to expect from Golden Helix in 2015

Jan 8, 2015

There is a lot we can be grateful for at Golden Helix. The past year was marked by two major breakthrough launches. Earlier in 2014, we shipped SVS 8 which unified SVS with our GenomeBrowse product. We were able to improve SVS’ data management and visualization capabilities. In addition we added a number of…

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PAG Bound!

Jan 6, 2015

Once again, we will be kicking off our year with our annual trip to San Diego for PAG XXIII. This year, it could not come at a better time. Over the last few weeks, it has been bitter cold in Montana with temps barely reaching above zero degrees and I…

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Genomic Prediction

Dec 16, 2014

The major interest in genomic prediction is best understood by looking at the growth of the human population. Over the last few hundred years we have experienced an increase in population due to medical advances and massive increase in agricultural productivity. The planet’s population continues to explode: from 1 billion…

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Bridging the gap between genetics and organic chemistry at UIUC

Dec 9, 2014

As Dr. Andreas Scherer mentioned in a blog post earlier this year, Golden Helix is committed to supporting the education of the next generation of genetic researchers. And as such, over the course of 2014, we at Golden Helix are working with education programs across the US and Canada to make…

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VarSeq: A bioinformatics Swiss Army knife

Dec 5, 2014

If you’ve seen the recent webinars given by Gabe Rudy and Bryce Christensen, you’ve no doubt been impressed by the capabilities of VarSeq when it comes to annotation and filtering. However, we sometimes forget that the power that enables all this complex analysis can also be used in more mundane…

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Analyzing Whole Exome, Large-n Cohorts in SVS

Nov 25, 2014

It’s come to my attention in recent weeks, through various customer interactions, that many are not aware of the fantastic functionalities that exist in SNP and Variation Suite (SVS) for large-n DNASeq workflows; this includes large cohort analyses with case/control variables. The data you’ll see below is the publically available…

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Research Capabilities of Golden Helix Software

Nov 20, 2014

The Golden Helix team enjoys following our customers’ success.  And we would like to share some recent client work to demonstrate what is possible with our software, as well as to inspire researchers to continue questioning current scientific norms.

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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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