Recent Customer Publications

         October 15, 2015
Customers

The month of October is flying by, and we have already had some great publications by some of our customers here at Golden Helix. We wanted to share them with you, and hope you find them as interesting as we did. Congrats to all who published! Bahram Namjou of the Cincinnati Children’s Hospital and colleagues published A GWAS Study on… Read more »

Reflection on ASHG 2015

         October 14, 2015

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 »

Introduction to Sergey Kornilov

         October 8, 2015

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 »

Top Five Add-On Scripts for SVS

         October 6, 2015

While stand-alone SVS is an amazing statistical software package for genomics analysis, adding additional Python scripts to the program can expand SVS’s genomic analysis capabilities. In this post, I’ll take you through the most frequently downloaded Add-On Scripts for SVS and the top five were not what I expected! Coming in at Number Five is the script Convert Dosages to… Read more »

See you at ASHG 2015!

         October 1, 2015

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 »

What to expect from ASHG 2015

         September 29, 2015

The 65th annual ASHG in Baltimore will be another exciting one. We at Golden Helix have been very busy this year making great improvements to both SVS and the VarSeq software and we look forward to showcasing them during our in-booth demos. In particular, we will launch two new additions to the VarSeq software suite; VSReports and VSWarehouse. VSReports brings highly customizable clinical… Read more »

VSReports – Highlights from yesterday’s webcast

         September 24, 2015
Exome

Yesterday, our VP of Product and Engineering, Gabe Rudy, presented VSReports to the Golden Helix community for the first time in a live webcast; Authoring Clinical Reports in VarSeq. It was an excellent presentation. Gabe highlighted VSReports’ ability to take the output of tertiary analysis to a customized clinical grade report in one click. He also gave an overview of… Read more »

Recent Customer Publications

         September 22, 2015
Customers

This month we wanted to highlight four publications from a few of our valued customers. Congrats to all! Zuemei Ji and Christopher Amos of Dartmouth University published The Role of Haplotype in 15q25.1 Locus in Lung Cancer Risk: Results of Scanning chromosome 15 in the Oxford Journals which analyzed lung cancer patients and a control study to determine that rs588765-rs16969968 may… Read more »

Clinical Reporting comes to VarSeq

         September 17, 2015

The next release of VarSeq will ship a new product that is highly relevant to our customers in clinical testing labs. Via VSReports, VarSeq now has the ability to generate clinical-grade reports. These reports are fully customizable, containing focused and actionable data. VS Reports ships with report templates that are modeled off of the ACMG guidelines, the de-facto gold standard… Read more »

Precision Medicine e-Book

         September 15, 2015
e-Book

Precision Medicine e-Book “It’s far more important to know what person the disease has than what disease the person has.” – Hippocrates (460 BC – 370 BC) Almost 2,500 years ago, Hippocrates captured one of the key principles underlying precision medicine. In the 21st century we take the understanding of the individual characteristics of a person to a new level…. Read more »

Introducing VarSeq Viewer!

         September 10, 2015

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 »

Dr. Scherer is a Keynote Speaker at Genomics 2015

         September 8, 2015

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 »

An Introduction to Hilal Al Shekaili

         September 3, 2015

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 »

OMIM Coming to VarSeq

         September 1, 2015

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 »

Between Two Bases: Coordinate Representations for Describing Variants

         August 27, 2015

Have you ever scratched your head when looking up a variant and it seems like the number you have for its position is one off from what it looks like in the file or database? You may be running into the dreaded world of 1-based versus 0-based coordinate representation! If it’s any consolation, I can promise that all the bioinformaticians… Read more »

GxE Regression Option to be Available in SVS

         August 26, 2015

We are pleased to announce that another one of the most asked for features is going to be a part of our SNP & Variation Suite™ software, Gene by Environment Interaction Regression (also known as GxE Regression). Earlier this year other highly asked for features were added to SVS including applying a prediction model to a new dataset, cross-validation for… Read more »

Coverage Statistics Come to VarSeq

         August 20, 2015

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 »

Quality Assurance: Is it a Boy or Girl?

         August 18, 2015

A common question that comes through support is if there are options in SVS for doing gender inference or checks. There is indeed functionality in SVS for this QC check!  This function is under the Genotype Menu for Sample Statistics; there are a lot of great statistics available to check the quality of your data in SVS, but I’ll walk… Read more »

Our Customers’ Success

         August 13, 2015

August is off to a great start, especially for some of our customers who have recently published. I wanted to take a minute to share their work with you. Gabor Meszaros of BOKU University Vienna and colleagues published Genome-Wide Selection Signatures in Pinzgau Cattle in Potravinarstvo Scientific Journal for Food Industry which used SNP BeadChips to identifygenomic regions near QTL associated… Read more »

Dr. Folefac Aminkeng Publishes in Nature Genetics

         August 11, 2015

Today I wanted to take a moment to recognize a long-time Golden Helix customer, Dr. Folefac Aminkeng of the Canadian Pharmacogenomics Network for Drug Safety and the University of British Columbia on his recent publication A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer, in Nature Genetics. Aminkeng and his colleagues performed a genome-wide association study in… Read more »