Tag Archives: Golden Helix

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 »

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 »

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 »

FASTQ to Report: Streamlining the process with Golden Helix Software

         August 3, 2022

Manually converting FASTQs to VCFs, importing these into VarSeq, and building projects from scratch is adequate when you have only a handful of cases per week. But as you start ramping up production, the key to your lab’s success quickly becomes how quickly and efficiently you can get to the reporting of your analysis. This blog will explain how you… Read more »

July 2022 Customer Publications

         July 28, 2022

July brought about several customers having success with utilizing our VarSeq software. We saw publicized research regarding Axenfield-Reiger syndrome, Septo-Optic Dysplasia, and association of TGFBI variants. This range of customer usage displays the vast capabilities of VarSeq and the applications it can work with. Axenfeld-Rieger syndrome: more than meets the eye Background: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment… Read more »

Locking down clinically validated workflows for routine analysis

         July 20, 2022

Let’s say you are the director of a large lab, which is running tens or hundreds of standard NGS sample analyses per week. You have a number of employees with varying levels of analysis background, and you want to be sure everyone is running the analysis the same way. You are also concerned about updating catalogs that could create differences… Read more »

Handling a Variety of CNV Caller Inputs with VarSeq – Webcast Recap

         July 19, 2022

First, thank you to everyone who joined us for our recent webcast, Handling a Variety of CNV Caller Inputs with VarSeq. Also, we would like to thank those that Tweeted #CNVsupport @GoldenHelix or emailed us (mmarks@goldenhelix.com) to throw in their questions. This was a successful trial run, and we would like to continue engaging with our users through these outlets…. Read more »

Getting the most out of variant visualizations in GenomeBrowse

         June 29, 2022

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… Read more »

Customer Publications June 2022

         June 28, 2022

Below is a list of highlighted peer-reviewed publications from this month. The Golden Helix team consistently enjoys seeing our software applications hard at work in the field, whether it is clinical whole-exome sequencing, targeted CNV identification, or genotype-phenotype correlations. Enjoy reading below how our suite of VarSeq, VSClinical, and VS-CNV continues to contribute to the progression of genetics research. Looking… Read more »

A Great Return to ESHG 2022

         June 22, 2022

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… Read more »

Customizing Your Clinical Reports: Reordering the Variant List

         June 7, 2022

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… Read more »