Author Archives: Mary Marks

Can SVS Help Plant Genetics Researchers too? You betcha!

         December 20, 2011

Dr. Raman Babu is a Maize Molecular Breeder at the International Maize and Wheat Improvement Center (CIMMYT). Like his counterparts conducting human genetic research, Babu used to rely entirely on free, open-source tools to complete his work. Frustrated with continual crashes and technology that was developed in the pre-SNP era, Babu switched to SNP & Variation Suite (SVS) almost a… Read more »

Leaky Sprinklers and “The Future of NGS Market Study 2011”

         November 23, 2011

Have you ever chosen to do something yourself instead of paying money for the alternative, when, in the long run, the alternative is not really that expensive? We all have, as we all have limited budgets. One particular example comes to mind in my own life. My boyfriend, Ben, and I bought a house in April. Unfortunately, it wasn’t properly… Read more »

Is NGS the Answer?

         November 9, 2011

While there is a lot of excitement in the industry about Next-Generation Sequencing, questions remain as to whether it will be “the answer” to the ails of the genetic research industry. I recently had the opportunity to sit down with three of Golden Helix’s thought leaders and ask a few questions about NGS – Gabe Rudy, Vice President of Product… Read more »

SVS 7.5 Now Available!

         July 28, 2011

More powerful rare variant analysis and visualization techniques We are proud to unveil SNP & Variation Suite (SVS) 7.5! The fifth installment of SVS delivers the most powerful rare variant analysis tools with the latest advances in tertiary or “sense making” methods for DNA next-gen sequencing. This release also adds some cool and productive features to our popular Genome Browser…. Read more »

SVS 7.5 Feature Sneak Peek: Grouping and Filtering in the Genome Browser

         June 8, 2011

Ever since the release of SNP & Variation Suite (SVS) 7.4 back in January, our software engineers have been hard at work developing new functionality for the next version, to enable researchers to have even more control over their data. (Okay, well really, they started working on it before 7.4 even came out.) While the full details of 7.5 are… Read more »

Summary and Q&A: “A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans”

         May 24, 2011

The common disease-common variant hypothesis has established the foundation of SNP-basis genome-wide association studies for the last several years. However, with few strong associations found, researchers are beginning to consider the effects of rare variants through the burgeoning availability of DNA sequencing. Qianqian Zhu and Dongliang Ge, of the Center for Human Genome Variation at Duke University, and others recently… Read more »

Recent Publications on Polycystic Ovary Syndrome, Bovine Calving Ease, Systemic Lupus Erythematosus, and much more

         March 29, 2011

We’ve had another busy few weeks for Golden Helix customers who have been hard at work publishing in all sorts of journals on all sorts of topics. (All abstracts below.) First off, from the Cedars-Sinai Medical Center in LA, “Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome” was recently in Fertility and Sterility with… Read more »

Recent Publications on Schizophrenia, Cocaine Abuse, Childhood IgA Nephropathy, CNV Regions, and Genetic Variants in Metabolic Traits

         January 5, 2011

Happy New Year! Golden Helix customers published 92 papers in 2010 unveiling new associations and novel findings using SNP and Variation Suite – a great feat for all! We anticipate an even more “significant” 2011. Wrapping up last year, congrats to Subba Rao Indugula, Guangyun Sun, and Ranjan Deka over at the University of Cincinnati College of Medicine for their… Read more »

Recent Publications on Type 2 Diabetic Retinopathy, Grapevine Flavor, Pulminary Function, and Pharmacogenetics Testing

         November 30, 2010

Let’s kick off this month’s recognition with Audrey Papp and Wolfgang Sadee at Ohio State University for their work on “Flavopiridol Pharmacogenetics: Clinical and Functional Evidence for the Role of SLCO1B1/OATP1B1 in Flavopiridol Disposition” just published in PLoS ONE. (All abstracts below.) Also in pharmacogenetics (albeit in mice) this month is Tristan Sissung at the NIH National Cancer Research. His… Read more »

Recent Publications on Ankylosing Spondylitis, Asthma, Heroin Dependence, and Lupus

         October 6, 2010

It’s been a busy month for the genetics community, and Golden Helix customers are no exception. First in the line up, congrats to Marta Artieda with Progenika Biopharma in Spain for her work on “Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population” in the Journal of Rheumatology (abstract below). Next up, kudos to… Read more »

New Add-on Scripts Available: BEAGLE & BEAGLECALL Scripts Package

         September 8, 2010

In the ongoing quest to empower our customers with the latest in genetic analysis methods, we are continually releasing new functionality for SNP & Variation Suite 7 in the form of add-on scripts. Add-on scripts are written in Python, a clear and powerful object-oriented programming language similar to Java or Perl. Python provides fully-programmatic access to most aspects of the… Read more »

Recent Publications on Late-Onset Sporadic Parkinson’s and Renal Cell Carcinoma

         September 1, 2010

We’re inspired by significance. Every tool we develop and every service we deliver is designed to help our customers achieve significance in their research. Not only statistical, but scientific and personal significance as well. The icing on the cake is being able to share what our customers do and discover with others in the scientific community. We applaud each author… Read more »