2023 Innovation Awards

         December 1, 2022

We at Golden Helix love seeing our software and solutions out in action. Whether it is to find a clinical solution or to assist in academic research, seeing YOU use our tools to the best of their ability gets us excited to continue developing industry-leading software. For the 2023 Innovation Awards, we would like to see all the creative and… Read more »

Customer Publications – November 2022

         November 30, 2022

This November’s published articles citing Golden Helix software serve as a testament to our broad application and utility in NGS data analysis. We are always proud of our customers and the contributions they make to scientific discovery. Their continued work and research are motivators for us to continue delivering the best products we can. This month we are featuring two… Read more »

Streamlining Variant Analysis for Large Genetic Cohorts: Part 2

         November 29, 2022
Streamlining Variant Analysis for Large Genetic Cohorts: Part 2

The last blog in this series covered streamlining variant analysis for large genetic cohorts, namely case-control studies, on a single-project basis. The reality when dealing with big data is that you often do not handle a high volume project all at once. Therefore, we will follow up on the topic of cohort analysis by discussing Golden Helix’s solution for streamlining… Read more »

Webcast Recap: VarSeq 2.3.0: Supporting the Full Spectrum of Genomic Variation

         November 22, 2022

Thank you to everyone who joined us for our webcast on the upcoming VarSeq features supporting the full spectrum of genomic variation! Traditionally, NGS cancer testing started with small gene panels that looked at a small set of the most common genes to identify small mutations, such as BRAF V600E. However, there are many classes of mutation that cannot be… Read more »

Women in STEM: Golden Helix Employees

         November 10, 2022

Here at Golden Helix, we would like to take a moment and highlight some of our amazing and talented women in STEM! Below are short excerpts from some of our own Golden Helix employees and their experiences both in STEM and here at Golden Helix.   Rana Smalling Field Application Scientist B.S. in Biological Sciences, Ph.D. in Biochemistry My experience in STEM started in… Read more »

Golden Helix Announced BioTech Company of the Year by BioTech Breakthrough

         November 4, 2022

We are honored to be awarded and recognized in this year’s BioTech Breakthrough Awards. “Advances in biological sciences, combined with accelerating development of computing, data processing, and AI are fueling a new wave of innovation in the healthcare sector. These advances are providing new understanding, new materials, new tools, as well as lower costs. We’re seeing trends in use of… Read more »

ACMG Auto Classifier: Variant Site or Sample Classifier?

         November 1, 2022

The ACMG classification guidelines for variant pathogenicity are as ubiquitous as they are complicated to implement. They play a consistent and evolving role in the standard workflows of many experts in the next-generation sequencing field, both in the clinical and research space. Furthermore, they can be effectively applied in both somatic and germline workflows. Hence, consistent and auditable methods for… Read more »

Heading to Phoenix, AZ for AMP 2022

         November 1, 2022

The Golden Helix team is headed off to Phoenix, AZ for the Association for Molecular Pathology Annual Meeting & Expo (AMP) 2022. We are enthusiastically awaiting a week of genetics discussions with new and familiar faces. If you are attending, please stop by our booth and say hello! We will be exhibiting at booth 1432. Golden Helix President & CEO,… Read more »

Customer Publications – October 2022

         October 31, 2022

The month of VarSeq must be October. This month we saw incredible research and clinical application being utilized with the VarSeq suite. Whole exome sequencing and variant filtering and annotation, CNV calling for oncology research, and pathogenicity classification using the ACMG guidelines. VarSeq was able to be a front-runner this month, showing the full range of capabilities. Germline RB1 Mutation… Read more »

Using rsID lookup in a VarSeq Workflow

         October 4, 2022

There are many reasons a user may wish to focus in on specific variants as part of variant annotation and filtration workflow. You may be looking for the occurrence of specific SNPs in a cohort or perhaps looking for variants known to be associated with specific forms of cancer. For both of these use cases, VarSeq provides a Match String… Read more »

Customer Publications – September 2022

         September 30, 2022

Every month we compile customer publications that reference us, and every time I am excited to see the amazing work being done around the world. From pediatric heart conditions to rare diseases, or a Thai clinical study on dilated cardiomyopathy, it is always a pleasure to see the Golden Helix Software suite helping research and clinical genetics. Below are a… Read more »

Streamlining Variant Analysis for Large Genetic Cohorts: Part 1

         September 27, 2022

Large genetic cohorts require substantial effort to analyze. Genetic researchers are increasingly turning to whole exome and whole genome sequencing analyses for their clinical diagnostics and research. However, with that approach comes the challenge of making sense of these massive datasets. This is especially challenging when looking for tools that can streamline variant analysis for large genetic cohorts and include… Read more »

Optimizing CNV caller for smaller panels

         September 22, 2022
optimizing cnv caller

The ability to analyze copy number variants (CNVs) is an important aspect of any clinical or research workflow. While calling CNVs can be a challenging engineering problem, we are thrilled by our capacity to detect, analyze, and catalog CNVs all in the same place with VarSeq-CNV. In this blog, we will dive into the particulars of detecting CNVs with gene… Read more »

Where We Are Headed – Upcoming Conferences for Golden Helix

         September 20, 2022

There are a number of conferences coming up on our schedule in the next few weeks. It’s a great opportunity check out the latest developments at Golden Helix and see exciting technologies in action. These conferences are a wonderful opportunity to discuss new discoveries in genomics. We will be there with our clinical NGS analysis software, the VarSeq suite, to… Read more »

2022 Innovation Awards Winners

         August 31, 2022

We would like to thank everyone who entered our 2022 Innovation Awards Competition. It is always a pleasure to read and learn about the various ways Golden Helix software is applied around the world as well as the amazing research that is being done. With that said, it is our pleasure to announce this year’s winners! First Place: Ammar Husami… Read more »

August 2022 Customer Publications Blog

         August 30, 2022

This past month has produced some very interesting and diverse publications, all of which are using the VarSeq suite of products for whole exome & whole genome sequencing strategies. This month had it all: investigations of an understudied population in pharmacogenomic testing, the first-ever find with implications for Maine coon cats, and a puzzling case with a unique family displaying… Read more »

User Perspective For Somatic Analysis in VSClinical AMP: Webcast Q & A Follow-Up

         August 25, 2022
AMP Webcast Q&A

Thank you to those who attended our webcast on the user perspective of our automated AMP guidelines! Furthermore, let me express our appreciation for those particularly engaged users who posed some very thoughtful questions. While we weren’t able to answer all of them live, I hope to shed some light on some pertinent details of somatic analysis here. Let’s start… Read more »

2022 T-Shirt Design Competition

         August 22, 2022
2022 t-shirts

It’s everyone’s favorite time of the year; Golden Helix’s Annual T-Shirt Design Competition is starting! If you’d like to participate, simply visit goldenhelix.com/t-shirt-contest and submit a sketch of your design! Don’t forget about the sweet prizes we’re handing out for the top three designs: First Place: $300 Second Place: $200 Third Place: $100 Deadline: September 14, 2022 How It Works… Read more »

Predicting the Functional Impact of Genetic Variants Using VarSeq

         August 9, 2022
Predicting the Functional Impact of Genetic Variants Using VarSeq

Large-scale next-generation sequencing studies are becoming increasingly popular clinical and research tools. One enduring challenge for interpretion of these large amounts of data has been predicting the functional impact of genetic variants. Access to efficient computational tools for predicting the functional impact of variants is crucial to prioritizing the most potentially relevant variants in a dataset in a time-efficient manner…. Read more »