Golden Helix Blog

Variant Normalization – Choosing When to Split Multinucleotide Variants Into Allelic Primitives.

Dec 20, 2022

Variant normalization is essentially reducing the representation of a variant to its canonical representation. Variant normalization ensures that the way a variant is represented is parsimonious and left-aligned and can also refer to splitting variants into their allelic primitives. VarSeq normalizes variants by default, but we offer users the option…

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Customer Publications – November 2022

Nov 30, 2022

This November 2022, 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…

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Streamlining Variant Analysis for Large Genetic Cohorts: Part 2

Nov 29, 2022

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…

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

Nov 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.…

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Women in STEM: Golden Helix Employees

Nov 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.A. in…

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Golden Helix Announced BioTech Company of the Year by BioTech Breakthrough

Nov 4, 2022

We are honored to be awarded and recognized with this year’s BioTech Breakthrough Award, a prestigious accolade that highlights excellence and innovation across the biotechnology industry. At Golden Helix, we take immense pride in providing robust, user-friendly solutions that help researchers and clinicians translate complex genetic data into meaningful insights.…

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ACMG Auto Classifier: Variant Site or Sample Classifier?

Nov 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…

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Heading to Phoenix, AZ for AMP 2022

Nov 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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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