Gabe Rudy

VarSeq: Making Variant Discovery and Gene Panels Easy

v_ontop_TM_white_200

Last week, our CEO Andreas Scherer announced our entrance into the clinical testing market with VarSeq. This week, I will be giving a webcast on Wednesday introducing this new tool and demonstrating its capabilities. (Register for the webcast)

VarSeq’s focused purpose is making NGS gene testing and variant discovery efficient, scalable and accessible to users with a broad range of backgrounds and specialties.

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

Posted in Big picture, News, events, & announcements | Tagged , , , , | 2 Comments
Andreas Scherer

Entering the Clinical Testing Market with VarSeq

The adoption of genetic services is key to our ability to provide personalized medicine in the future. The goal is to better diagnose diseases, predict their outcomes, and to choose the best possible care option for a patient. Our part here at Golden Helix is to essentially build the equivalent of an MRI for the genome. In this process the latest research on disorders is combined with our understanding of the best treatment option at any given time.

Next week, on October 1st, we will launch VarSeq in a live webcast.
Continue reading

Posted in About GHI, Big picture | Tagged , , , , , | 1 Comment
Alyssa Burzynski

Exciting News for ASHG!

With ASHG only four weeks away, the hype has only continued to grow. The 64th Annual Meeting of the American Society of Human Genetics is shaping up to be one of the best with some amazing abstracts, including one from our very own Greta Linse Peterson. Greta will be presenting Monday, October 20th in room 20A at 6:15 PM in the Statistical Methods for Population Based Studies session on “A logistic mixed model approach to obtain a reduced model score for KBAC to adjust for population structure and relatedness between samples.” Continue reading

Posted in About GHI, Big picture, News, events, & announcements | Tagged , , , | Leave a comment
Bryce Christensen

A few thoughts from IGES

Late last month I had the opportunity to attend one of my favorite events: the annual meeting of the International Genetic Epidemiology Society (IGES).  This year’s conference was held in Vienna, in conjunction with the Genetic Analysis Workshop (GAW) and the International Society for Clinical Biostatistics (ICBS).  The program at IGES this year was very diverse, with content ranging from Pharmacogenomics to risk prediction to microbiomics and beyond.

The session on risk prediction, held jointly with ICBS on August 28th set the theme of the conference for me.  Two talks in particular, by Joan Bailey-Wilson and Bertram Müller-Myhsok, really made me think about what elements are required to successfully implement a predictive model based on genetic data, and I listened to the rest of the conference with this theme in mind. Continue reading

Posted in Big picture, News, events, & announcements | Tagged , , , , | Leave a comment
Alyssa Burzynski

21 Things You (Probably) Don’t Know About Golden Helix

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

Posted in About GHI | Tagged , | Leave a comment
Chelsey Clayton

Top 3 Most Viewed Tutorials from Golden Helix

Tutorials are ever-present in the world today, and for good reason. Why struggle through a complicated process yourself, when there is already a guide established to assist? While no one would suggest that a tutorial is the only way to complete a project, it is certainly a nice starting point.

This rings true with genetic software as well. There are many ways to analyze DNA-Seq and SNP data, but a starting point is helpful. With that in mind, Golden Helix has curated tutorials to help researchers with their analysis, on levels varying from beginner to advanced. Continue reading

Posted in Best practices in genetic analysis, Uncategorized | Tagged , , , | Leave a comment
Ashley Hintz

Tips and Tricks for Quality Control Metrics

SVS offers options for performing many different QC functions on genomic data. This blog takes you through some of the most commonly applied filters for various analysis types.

Filters for GWAS data vary depending on the type of association tests you are performing. A typical GWAS for a common variant usually requires filters to remove problematic or poorly called variants, and also to eliminate rare variants, as they have limited statistical power.  The default minor allele frequency (MAF) threshold in SVS is set at 5%, but users may often wish to use lower thresholds (1% or less), especially with larger numbers of samples.  The default call rate threshold in SVS is 0.95, but might be adjusted to reflect the call rate which would be considered an outlier in your data.  LD pruning to remove correlated SNPs is a good practice prior to running principal components analysis, IBD analysis, or other population-level functions that might be biased by large blocks of redundant SNPs. Most of these functions, together with many others, can be found under the Genotype menu in any SVS spreadsheet. Continue reading

Posted in Assessment of new methods | Tagged , , , , | Leave a comment
Andreas Scherer

False Positives in Big Data Analytics

We had a lot to celebrate recently. Last year was the 300th anniversary of Jacob Bernoulli’s Ars Conjectandi. In this book he consolidated central ideas in probability theory, such as the very first version of the law of large numbers. It was also the 250th anniversary of  Bayes theorem named after Thomas Bayes (1701–1761), who first suggested using the theorem to update beliefs. Continue reading

Posted in Big picture | Tagged , , , | Leave a comment
Gabe Rudy

Updates to ClinVar and dbSNPs: Fresh charts for Cromonaughts!

I’m sitting in the Smithsonian Air and Space Museum basking in the incredible product of human innovation and the hard work of countless engineers. My volunteer tour guide started us off at the Wright brother’s fliers and made a point of saying it was only 65 years from lift off at Kitty Hawk to the landing of a man on the moon.

I was dumbstruck thinking that within a single lifetime the technology of flight could go from barely existing to space travel. Continue reading

Posted in Technology review | Tagged , , , , , , | 1 Comment
Andreas Scherer

Top 5 Webcasts to Watch at GoldenHelix.com

Genomic research is exploding. There is a plethora of new methods and workflows for research and clinical use. While we are a software company at heart, we find ourselves in the role of educators. Our customer interactions are about informing, teaching, and consulting. A few years back, we started with regular webcasts that took this idea to the next level. Over time we have assembled a lot of material that is useful for people in our field-whether they use our software or not. Continue reading

Posted in Best practices in genetic analysis, How to's and advanced workflows | Tagged , , , , | Leave a comment