Golden Helix Blog

Genetic Data Warehousing e-Book

Feb 10, 2016

Genetic Data Warehousing e-Book In our webcast last week, we announced the upcoming release of VSWarehouse, a scalable genetic data warehouse for VarSeq, Golden Helix’s flagship genomics software. Genetic data warehousing becomes more important as Next-Generation Sequencing is taking off in the clinic, creating significant data management issues for clinicians, scientists…

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New SVS Meta-Analysis Example Project

Feb 9, 2016

New SVS Meta-Analysis Example Project The latest version of the GWAS E-book featured a chapter on Meta-Analysis. We are pleased to make the project used in this chapter available as an example project for SVS (SNP & Variation Suite). This blog post will walk you through the analysis steps used…

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Q&A from the VSWarehouse Launch Webcast

Feb 4, 2016

Yesterday, it was my pleasure to share in a live webcast our integrated solution for genetic data warehousing, VSWarehouse. Although we had a great set of questions at the end of our presentation, we didn’t have time to answer all of them, so here is a selection of the remaining representative…

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Compound Heterozygous Workflows: Including a 2nd Affected Child

Feb 2, 2016

Compound Heterozygous Workflows: Including a 2nd Affected Child Looking for Compound Heterozygous regions for a trio is fairly straight forward in VarSeq, we include this workflow in our shipped Exome Trio Template. An example of which is included with our Example Projects which can be found by going to File…

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GWAS Example Project Updated for SVS Viewer

Jan 26, 2016

With the release of our updated GWAS E-book, we have recently updated the GWAS example project (SNP Genome-Wide Association Tutorial – Complete). This updated project includes more details about how spreadsheets were generated, how to generate plots and which images were used for the GWAS E-book. This information can be found…

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Announcing VSWarehouse – Golden Helix’s Data Warehouse Solution for genomic data

Jan 21, 2016

So, why are we launching a new data warehouse product? Why did we build VSWarehouse? According to Grand View Market Research, the next generation sequencing (NGS) market size was $2.0 billion (USD) globally in 2014. This number is expected to grow from 2015 to 2022 at an annual rate of…

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GWAS eBook – 2nd Edition

Jan 12, 2016

I hope your 2016 is off to a good start! We at Golden Helix have been busy preparing and planning new and updated content for the community. First up is an updated GWAS ebook which includes a sample Meta-analysis example project. In the 2nd edition, we start with an introduction…

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Genomic Data is Big Data, But That is not the Hard Part

Jan 7, 2016

There is no doubt that we have big data in the field of genomics in general and Next Generation Sequencing specifically. Illumina’s latest HiSeq X can produce 16 genomes per run, resulting in terabytes of raw data to crunch through. Yet all that crunching is not the hard part. So,…

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Headed to San Diego for PAG XXIV

Jan 5, 2016

The holiday season has come to a close and we are headed to sunny San Diego for PAG XXIV! This year, our President and CEO Andreas Scherer along with Greta Linse Peterson our Director of Services and Mary Makris our Operations and Marketing Manger, will be manning the Golden Helix booth, so…

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What to expect from Golden Helix in 2016

Dec 31, 2015

Golden Helix in 2016 We had a terrific year 2015. It was the year in which we got serious about the clinical testing market. We successfully continued on the path of attracting more referenceable clients such as University of Iowa, Baby Genes, Prevention Genetics and many more. We rounded out…

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Match Gene List algorithm not just for genes

Dec 17, 2015

The most common use of the VarSeq Match Gene List algorithm of course is to determine if the variants in your data set are contained within your genes of interest. As an example of this, say you are working with a whole exome trio and only want to consider those…

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Visualizing Meta-Analysis results with a Forest Plot

Dec 10, 2015

We have just released SVS version 8.4.2, and included in the release is a new script for visualizing Meta-Analysis results with a Forest Plot. You can find full details on all the new and updated features included with the update in our Release Notes. Release Notes from all our software…

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Updates to dbNSFP – The Universal Remote of Annotation Sources

Dec 8, 2015

Probably one our most popular public annotation sources we curate and update is the database of Non-Synonymous Functional Predictions (dbNSFP). In it’s recent update, it has expanded the predictions to include FATHMM-MKL and VarSeq now incorporates this new prediction into its voting algorithm of now 6 different discrete predictions per…

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Handling Singletons & Complex Pedigrees with Gene Count Algorithms

Dec 3, 2015

As VarSeq’s adoption has grown among analysts using whole exome data to diagnose rare diseases, a couple of family designs outside of the common trio of an affected child and both parents have come up frequently. While having both parents provides the maximum power to discover de novo mutations and…

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Tumor-normal demo project comes to VarSeq

Dec 1, 2015

With the release of VarSeq 1.3.1 we have included a new demo project to showcase a single tumor-normal pair analysis workflow. The project can be accessed through VarSeq and VarSeq Viewer by going to File > Open Example Projects > Example Tumor-Normal Pair Analysis. This project contains an exome pair…

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A New and Unexpectedly Powerful VarSeq Feature

Nov 17, 2015

With the release of VSReports, we added the ability to “select” rows of your filtered output (often variants, but potentially things like coverage regions or genes) with a new feature dubbed “Record Sets”, but more often described as “colored checkboxes” for your tables. Although necessary for the important task of…

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New VarSeq Demo Projects

Nov 12, 2015

As VarSeq gains in popularity, we want to give Viewers and customers alike the opportunity to look at projects that are completed from start to finish. To this end, VarSeq (and VarSeq Viewer!) currently comes with two demonstration projects, Example TruSight Cardio Gene Panel and Example YRI Exome Trio Analysis. To…

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Try out SVS for Free!!

Nov 10, 2015

Give our SVS viewer a try today! Interested in seeing what the SNP & Variation Suite (SVS) software can do? Download the free SVS Viewer! With the SVS Viewer, you can explore and interact with the workflows of a pre-built projects. To get you started, we have included a SNP GWAS…

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Q&A from the Two Clinical Workflows webcast

Nov 5, 2015

Our webcast yesterday featured two clinical workflows and and the ease in moving from an unfiltered variant file to a clinical report containing the variants of interest using VarSeq and VSReports. There were several great questions and I wanted to pass on a few of particular interest. Question: Are annotation sources…

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They’ve isolated the funding gene!

Nov 3, 2015

Bipartisan Budget Act of 2015 Passed! We at Golden Helix, and I are certain that many in our community, are more than pleased to hear that President Obama has signed the “Bipartisan Budget Act of 2015“. Most importantly, the budget agreement raises discretionary spending by $80 billion in fiscal years…

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