Golden Helix Blog

Golden Helix Leaves Its Fingerprint on the Cure with EA at ASHG

Oct 31, 2012

Golden Helix is proud to announce our participation in EA’s 2012 “Leave Your Fingerprint on the Cure.” This event will be taking place at ASHG 2012 in San Francisco at the Moscone Center on November 7th. The fifth annual “Leave Your Fingerprint on the Cure” was designed by EA to…

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Dr. Folefac Aminkeng Saves Time and Increases Productivity with SVS to Study the Pharmacogenomics of Adverse Drug Reactions in Cancer Therapy

Oct 17, 2012

Dr. Folefac Aminkeng is a Postdoctoral Fellow at The Centre for Molecular Medicine and Therapeutics (CMMT) at the University of British Columbia in Vancouver, BC, Canada. He utilizes GWAS studies to identify single-nucleotide polymorphisms (SNPs) that might be associated with serious adverse drug reactions (ADRs) in cancer therapeutics. The field…

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Streamlined Workflow for Identifying Candidate Functional Polymorphisms

Oct 4, 2012

Since Dr. Ken Kaufman gave his webcast on Identifying Candidate Functional Polymorphisms in SVS, we’ve been working with Dr. Kaufman to simplify and automate many of the steps in his workflow.  I touched on this in my last blog post, and I’m excited to report that with Ken’s help, we’ve…

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Guest Post: Next Generation Variant Calling

Sep 26, 2012

Editor’s Note by Gabe Rudy: I’ve had the chance to exchange thoughts, emails, and blog post comments for a while now with Jeff as he has written posts on NGS Leaders and engaged with me on 23andMe. He has also worked with Golden Helix software as part of Dr. Todd…

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GenomeBrowse is here!

Sep 13, 2012

Golden Helix announced it would offer a complimentary genome browser for visualizing DNA and RNA-Seq data back in October of 2011; however no release date was disclosed at that time. Well, after much blood, sweat, and tears, we are VERY excited to announce that GenomeBrowseTM is here! GenomeBrowse raises the…

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New Tools to Simplify the Workflow for Identifying Candidate Functional Polymorphisms in SVS

Sep 5, 2012

Dr. Ken Kaufman’s extremely popular webinar inspired us to build new tools that would simplify the process of analyzing whole-exome DNA sequencing data even further.  First I’ll describe the tools showcased in the webcast.  Then I’ll detail the new tools we created to allow for a revised and simplified workflow.…

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Peter K. Gregersen, MD Puts Analytical Power in the Hands of the Biologist with SVS

Aug 21, 2012

Dr. Peter K. Gregersen, head of the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research, utilizes GWAS, targeted arrays, and sequencing technologies to identify genes associated with human autoimmune disorders. The arrival of the GWAS platform in the mid-2000’s greatly accelerated the…

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Learning vs. Doing (or why that Ph.D. took 10 years)

Aug 15, 2012

What prevents scientists from being more productive and if we knew, could we do anything about it? I’d like to look at an often overlooked, but huge productivity inhibitor — bad multitasking. Many people put “excellent multitasker” on their resume as a badge of honor. We laud the efficiency of…

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A Conversation with 1000 Genomes Analysis Group Member: Jeffrey Rosenfeld

Aug 14, 2012

After my latest blog post, Jeffrey Rosenfeld reached out to me. Jeff is a member of the Analysis Group of the 1000 Genomes Project and shared some fascinating insights that I got permission to share here: Hi Gabe, I saw your great blog post about the problems in the lack…

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Dr. Ken Kaufman’s Webcast on Exome Sequencing Wildly Successful

Aug 9, 2012

Thank you to everyone who joined us yesterday for a webcast by Dr. Ken Kaufman of Cincinnati Children’s Hospital: “Identification of Candidate Functional Polymorphism Using Trio Family Whole Exome DNA Data.” Over 750 people registered for this event and 430 attended – a new Golden Helix record! If you missed…

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Announcing Technical Support Bulletins

Jul 20, 2012

Last month I was inspired to create a new way to keep our customers apprised of the latest information on Golden Helix software without cluttering inboxes and overwhelming our blog. I happened to receive a link to an article for one of Illumina’s bulletins and realized that was exactly what…

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My 23andMe Trio Exomes Arrived: Sneak Peek

Jul 18, 2012

There is nothing cooler than having something arrive that you have been excitedly waiting for: last week I got an email notification that my 23andMe exome results were ready. Actually, I got 3 emails that my exome results were ready. You see, I lucked out. It all began two years…

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New 1kG, dbNSFP, and ESP6500 Annotation Tracks and Associated Filters

Jul 16, 2012

SVS 7.6.7 features new tools for filtering sequencing data based on functional predictions and allele frequencies. To complement these new features, new annotations tracks have been uploaded to our data server and are now available for our customers! Below you will find descriptions of the new tools and the related…

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“Easy-to-Use” SNP & Variation Suite Assists John Curtin, PhD in Uncovering Genetic Associations for Asthma and Allergies

Jul 10, 2012

Dr. John Curtin is a Lecturer in Functional Genomics at the University of Manchester where he works with a large team studying the development of asthma in a birth cohort. This group has received data on study subjects periodically for over a decade including before birth. Given how much data…

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What is Bioinformatic Filtering?

Jun 29, 2012

Recently I gave a presentation on bioinformatic filtering: the process of using quality scores, annotation databases, and functional prediction scores to intelligently and quickly reduce your variant search space. In this webcast, I mention that filtering is something we have been doing for a long time, and that there are…

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New Analysis and Spreadsheet Manipulation Tools in SVS!

Jun 28, 2012

The script development team at Golden Helix has been hard at work these past few months and this means several new and exciting tools for our SVS customers!  The scripts featured in this blog post vary in function, from expanding the analytical options currently offered in SVS to transforming and…

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New Technical Support Bulletins (Forthcoming!), and a Known Bug with Filter Samples by Call Rate

Jun 27, 2012

As Product Quality Manager, I have been spending quite a bit of time lately thinking about the best way to communicate with our Golden Helix customers with regards to product quality and customer support issues. Most of our customers at this point have already seen several emails from me this…

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Have We Wasted 7 Years and $100 Million Dollars on GWAS Studies?

Jun 21, 2012

Type 2 Diabetes, Rheumatoid Arthritis, Obesity, Chrohn’s Diseases and Coronary Heart Disease are examples of common, chronic diseases that have a significant genetic component. It should be no surprise that these diseases have been the target of much genetic research. Yet over the past decade, the tools of our research…

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Agrigenomic Researcher at U.C. Davis, Gonzalo Rincon, DVM, and Colleagues Publish 14 Articles and Obtain 2 Patents Using SVS

Jun 13, 2012

Editor’s Note: This case study was written while Dr. Gonzalo Rincon was with the University of California, Davis. Dr. Rincon is now working as a Principal Investigator in Animal Genetics at Zoetis. Gonzalo Rincon, DVM is a Project Scientist in the Medrano Lab, part of the Department of Animal Science,…

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Why You Should Care About Segmental Duplications

Jun 6, 2012

My work in the GHI analytical services department gives me the opportunity to handle data from a variety of sources.  I have learned over time that every genotyping platform has its own personality.  Every time we get data from a new chip, I tend to learn something new about the…

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