Golden Helix Blog

Customer Publications – October 2022

Oct 31, 2022

October 2022 was VarSeq’s month, and 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…

Read more →

Headed to Los Angeles, CA for ASHG 2022

Oct 20, 2022

Our team is getting ready to head to Los Angeles, CA for the American Society of Human Genetics Annual Meeting (ASHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say…

Read more →

Using rsID lookup in a VarSeq Workflow

Oct 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…

Read more →

Customer Publications – September 2022

Sep 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…

Read more →

Streamlining Variant Analysis for Large Genetic Cohorts: Part 1

Sep 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…

Read more →

Optimizing CNV caller for smaller panels

Sep 22, 2022

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…

Read more →

Where We Are Headed – Upcoming Conferences for Golden Helix

Sep 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…

Read more →

2022 Innovation Awards Winners

Aug 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…

Read more →

August 2022 Customer Publications Blog

Aug 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…

Read more →

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

Aug 25, 2022

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…

Read more →

Predicting the Functional Impact of Genetic Variants Using VarSeq

Aug 9, 2022

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…

Read more →

FASTQ to Report: Streamlining the Process with Golden Helix Software

Aug 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…

Read more →

July 2022 Customer Publications

Jul 28, 2022

July 2022 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…

Read more →

Locking down clinically validated workflows for routine analysis

Jul 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…

Read more →

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

Jul 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 ([email protected]) to throw in their questions. This was a successful trial run, and we would…

Read more →

Getting the most out of variant visualizations in GenomeBrowse

Jun 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…

Read more →

Customer Publications June 2022

Jun 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…

Read more →

A Great Return to ESHG 2022

Jun 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…

Read more →

Headed to Vienna, Austria for ESHG 2022

Jun 9, 2022

Our team is excited to be in Vienna, Austria for the European Society of Human Genetics Annual Meeting (ESHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello! You…

Read more →

Customizing Your Clinical Reports: Reordering the Variant List

Jun 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…

Read more →