June Newsletter

Customizing Your Clinical Reports: Reordering the Variant List 

Customizing Your Clinical Reports: Reordering the Variant List

By Dr. Jennifer Dankoff
Field Application Scientist

Oftentimes, the endpoint of a clinical variant analysis is a standardized, clinical report. As such, we ship a number of default templates with VSClinical for users to report their findings. But these templates are just a starting point! Our platform allows users to fully customize their reports to adhere to lab-specific preferences. We have shared a plethora of how-to’s on this subject ranging from export options to design recommendations. In this blog post, we will go over how to list variants in any preferred order when rendering your final report. Within VSClinical, you will find a set of Sort By: tabs at the top left of the Variants to...Read More

Getting the most out of variant visualizations in GenomeBrowse

Getting the most out of variant visualizations in GenomeBrowse

By Dr. Rana Smalling
Field Application Scientist

Genomic data visualization is an extremely powerful means to help users comprehend massive amounts of sequencing data and is valuable for communicating genomic information and findings. Genome browser tools allow users to visualize aligned sequence data in BAM format, map the data to a reference assembly, view annotation tracks, genomic region tracks, export graphics for sharing, and much more. Genome Browse is VarSeq’s built-in genome browser tool, and it is packed with useful features. Genome Browse is also available from Golden Helix as a free stand-alone tool. This blog post will delve into some of the features for variant visualization in VarSeq’s built-in genome browser. Users typically start Genome Browse by using the Plot option from the VarSeq...Read More

A Great Return to ESHG 2022

A Great Return to ESHG 2022

By Andreas Scherer
CEO and President

The Golden Helix team just returned from ESHG 2022 in Vienna, Austria. It was a great opportunity to speak with colleagues, customers, and partners face-to-face which many of us greatly missed. It has been three years since the last ESHG occurred in this format. Here are three takeaways from this year’s show: Strong bias to action: Some NGS initiatives that were planned pre-COVID had been postponed or even canceled due to labs shutting down or shifting focus towards building out COVID testing capabilities. Fast forward to 2022, labs are returning to their original agenda building out advanced NGS testing capabilities. In the current market environment, it is more important than ever to do this in a...Read More



CEO Corner
New eBook: Clinical Variant Analysis for Cancer

We have reached the halfway point of the year and we could not be more pleased with the successes we have recently experienced. ESHG 2022 was a resounding success and a delight to get to visit with new and familiar faces. I have outlined a blog with my three takeaways from this year's show. We also were awarded the title of Top 10 Emerging Biotech Companies to Watch in 2022 by Insights Success. It is an incredible honor and this acknowledgment could not be achieved without the continued support of our partners. I would also like to encourage all current and potential users of Golden Helix software to register for our upcoming webcast, Maximizing Profitability in Your NGS Testing Lab. I and our VP of Product and Engineering, Gabe Rudy, will be discussing the best practices of how you can maximize the profitability in your NGS lab and how our software suite supports these efforts.

Upcoming Webcast

Maximizing Profitability in Your NGS Testing Lab

Presented by Andreas Scherer, CEO and President & Gabe Rudy, Vice President of Product & Engineering

July 20, 2022 // 12:00 PM EDT

The automation of clinical NGS workflows provides a number of important benefits for labs. Automation reduces the time required to produce a clinical report, mitigates the possibility of human error, and improves the precision of clinical results. In turn, these benefits create higher profitability from a P&L perspective.

Golden Helix software is designed to meet these needs by automating the full analysis workflow from sequencer to clinical report on a fixed annual subscription model. We are looking forward to discussing the best practices of maximizing profitability in your NGS testing lab and how Golden Helix supports these efforts.

Join us in this webinar as we cover how to develop repeatable cancer and germline interpretation workflows that scale from panels to whole exomes and genomes.

Register Now
Customer Success

Congratulations to all of our customers who have published this month! To highlight just a few:

Targeted copy number variant identification across the neurodegenerative disease spectrum- Allisson Dilliot & colleagues, Western University / Published in Molecular Genetics & Genomic Medicine

A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls- Claudia Bianchini & colleagues, Azienda Ospedaliero Universitaria Italy / Published in NIH Epilepsy & Behavior Reports

About Golden Helix

Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.