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 stop by booth 129 to say “Hi!”. Since PAG XXIII,… Read more »
Recent Customer Publications We hope everyone had a Merry Christmas! The Golden Helix team is looking forward to the start of a new year, but first we wanted to share our last round of customer publications from 2015. Here’s to many more in 2016! Bishwa Sapkota and Dharambir Sanghera of the Oklahoma University Health Sciences Center and colleagues published The Genome-wide Association Study of… Read more »
From the Golden Helix family to you and yours, we wish you a happy Thanksgiving!
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 access these projects from the VarSeq start page go to… Read more »
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 2016 and 2017 which should create room for increased spending… Read more »
After our announcement in August that we would be making GxE Regression available in SVS, we were pleased to receive feedback that this was exactly what our customers had been wanting. Being able to account for environmental effects or gene effects as interacting with the SNPs was essential to those researchers working with GWAS. Unfortunately, this did not help our customers who were… Read more »
What you need to know At the beginning of October, VSReports came to VarSeq. Since then, we have been getting rave reviews from our customers. As Dr. Andreas Scherer mentioned earlier this month, VSReports takes the output of your tertiary variant analysis and converts it into a fully customized and actionable clinical grade report in just one click. Additionally, VSReports ships with… Read more »
ASHG 2015 in Baltimore was a very good conference for us at Golden Helix. It was a delight to connect with existing clients as well as interested members of our community. The conference is a premium networking opportunity for professionals in our field, with an ever increasing number of talks, demos and a constantly expanding vendor exhibition area. … Read more »
Our final webcast presentation in the series of winners from our Annual Abstract Challenge is first place recipient Dr. Sergey Kornilov. A Postdoctoral Associate in the Child Study Center at Yale University’s School of Medicine, Dr. Kornilov’s submission focused on the genetic basis of developmental language disorders in a geographically isolated Russian-speaking population. Next week on October 14th, he will… Read more »
The Golden Helix® team is gearing up for ASHG 2015 in Baltimore as I would guess many of you are too. I for one am super excited since I grew up in the Baltimore area and have a fondness for Inner Harbor and crabs! This year, you will find Ashley Hintz (our Field Application Scientist) and myself just inside the… Read more »
With our latest release of VarSeq last Thursday, we are proud to offer the VarSeq ® Viewer to the community, for free! When you download VarSeq ® Viewer, you can explore pre-built projects to interact with the annotations and filters the project provides, visualize selected variants with pile-ups, and export data to widely used formats. To get you started, we have included… Read more »
A widely attended conference that is coming up on September 21-23 is the third international conference on Genomics 2015 in San Antonio, Texas. The theme of this year’s conference is “Implications and Impacts of Genomic Advances on Global Health“, which promises to provide some interesting presentations and discussions. Current issues in the field to be addressed include next-gen sequencing, clinical and… Read more »
The past few months our webcast has featured a winner from our Annual Abstract Challenge, and we are happy to have our second place winner, Hilal Al Shekaili, as our speaker for September. Hilal’s submission surrounded novel genetic variants in a consanguineous family with pyridoxine-dependent epilepsy, and he will speak on his studies next Wednesday, September 9th (register here). To… Read more »
When it comes to down to it, the genomic variants we collect in a research and clinical setting are impossible to interpret without that important link of how genes are related to phenotypes. Indisputably, the Johns Hopkins project to catalog all evidence related to inheritable Mendelian diseases is our best repository of this evidence. Online Mendelian Inheritance in Man (OMIM)… Read more »
A prerequisite for clinical NGS interpretation is ensuring that the data being analyzed is of high enough quality to support the test results being returned to the physician. The keystone of this quality control process is coverage analysis. Coverage analysis has two distinct parts. Ensure that there is sufficient coverage to be confident in called variants Make certain that no… Read more »
Last month our webcast featured the third place winner of our Annual Abstract Challenge, Dr. Raluca Mateescu, and August’s webcast will feature co-winner, Dr. Vivien Sheehan. Dr. Sheehan’s submission last winter surrounded the pharmacogenomics of hydroxyurea in sickle cell anemia, and we are excited to have her present this research for our Golden Helix community next week (August 12th, register… Read more »
Today, we are proud to announce our collaboration with Fulgent Diagnostics, a CLIA certified molecular diagnostics lab. Fulgent offers more than 4,000 single gene tests among others and will implement VSPipeline to help speed up their analysis and interpretation process. On our quest to enable precision medicine, we look forward to working with Fulgent and other diagnostics labs in the… Read more »
Earlier this spring we announced that Meta-Analysis was coming to SVS very soon. Now, I am pleased to announce that it is available in the latest release of SVS (version 8.4.0). Meta-Analysis takes the results of two or more GWAS studies for multiple SNPs or markers, and standard meta-analysis statistics are then performed on each SNP and the results compiled into… Read more »
VarSeq now supports analysis of paired Tumor/Normal samples! Tumor/Normal support has been one of the most common feature requests for VarSeq since it was launched late last year, and we are excited to make this functionality available to all of our VarSeq users in the latest update (version 1.1.4). VarSeq is a powerful platform for annotation and filtering of DNA… Read more »
A few months ago in Golden Helix’s 2nd Annual Abstract Challenge, Dr. Raluca Mateescu tied for third place with her entry on the palatability of beef. We mentioned in our previous post highlighting all of the challenge winners that Dr. Mateescu would be presenting her work for the Golden Helix community and the time has come! Next week for our… Read more »
