Golden Helix Newsletter

 
Variant Annotation
Variant Notation: In simplicity we find complexity
by Andrew Jesaitis, Software Engineer

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 »

ASHG
Looking Forward to ASHG
by Andreas Scherer, PhD, CEO

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 12:30 pm 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 »

VarSeq by Golden Helix
VarSeq: Making Variant Discovery and Gene Panels Easy
by Gabe Rudy, VP of Product Development

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. Continue reading »

21 Things You (Probably) Don't Know about Golden Helix
by Alyssa Burzynski, Marketing Coordinator

Our 2 SNPs is typically dedicated to informing our customers and the community on the latest in analysis methods, best practices, and the future of the industry. But for this blog post we thought it would be nice to give you the insider's scoop on our company with a few things you probably didn't know about us. Continue reading »
 
   Latest Webcast
Introducing VarSeq: Variant Discovery & Gene Panels
Made Easy

Next Generation Sequencing has transitioned from a new and exciting technology with research potential to a robust and diverse assay with immediate clinical utility.

We introduce to you: VarSeq! VarSeq is a next generation tool designed around a focused and intuitive user interface for analyzing Next Generation Sequencing data, powered with the same mature Golden Helix core technology for data management, annotation, and visualization.
View recording »


   Featured SVS Script
Select Random Subset by Category
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   SNP-ITS
A Social Visit with Hallucinated Voices
I’ve met a lot of people who hear hallucinated voices and I have always been struck by the number of people who feel accompanied by them, as if they were distinct and distinguishable personalities.
Continue reading »


This Map Shows Which Disease is Most Likely to
Kill You Depending on
Where You Live

Most of the world will die of heart disease.

Using data from the World Health Organization, we labeled every country in the world with the disease that caused the most deaths within the nation.
Continue reading »



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About Golden Helix
Golden Helix has been delivering industry leading bioinformatics solutions for the advancement of life science research and translational medicine for over 15 years. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing. With our solutions, hundreds of the world's top pharmaceutical, biotech, and academic research organizations are able to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine. Golden Helix products and services have been cited in over 800 peer-reviewed publications.

 



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