Golden Helix Blog

VarSeq 2.5.0 Released!

Nov 14, 2023

As many of you may already know, we just released VarSeq version 2.5.0 this month! We have talked about the two headlining features a bunch, but we have not focused on what else has changed in VarSeq 2.5.0 that might also strike your fancy. For those of you who might…

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Introducing VarSeq 2.5.0: Elevating NGS Labs to New Heights

Nov 9, 2023

We’re buzzing with excitement and couldn’t wait to share some groundbreaking news with our community: VarSeq 2.5.0 has officially landed, and it’s here to transform your NGS lab experience! What’s New with VarSeq 2.5.0? VarSeq has always been about innovation and pushing the boundaries, and the 2.5.0 update is no…

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Evolution of Multi-Allelic Calls in VarSeq: Before and After Version 2.5.0

Nov 9, 2023

It may come as a surprise to our long-standing users that the multi-allelic import and representation in VarSeq is slated to have different import options with the 2.5.0 upgrade. As the software grows and evolves, we strive to meet the changing needs of our users, and this is one area…

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How Reproductive Risk and Residual Risk are Calculated for Couple Carrier Screening Workflows

Nov 7, 2023

Calculating Residual Risk Residual risk is the risk remaining after a negative screening test. At the core of the calculation of residual risk resides Bayes’ Theorem. This theorem is used to calculate the probability of an outcome given the probability of events required for that outcome. The probability of the…

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Deciphering the Genetic Code of Disease: Insights from VarSeq-Analyzed Research on Human and Feline Conditions

Oct 31, 2023

In the ever-evolving field of genetics, the quest to understand the intricate dance between genetic predispositions and disease manifestations continues to gain momentum. The three research papers presented here offer a glimpse into this complex interplay, each exploring the genetic underpinnings of distinct medical conditions across species. From the debilitating…

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Evaluating DeepMind’s AlphaMissense Classifier

Oct 20, 2023

Last month, the researchers at Google DeepMind announced the release of AlphaMissense, a new missense prediction algorithm that leverages the protein structure prediction model AlphaFold to distinguish between benign and pathogenic missense variants (Cheng et al., 2023).  AlphaFold is a model for the prediction of protein structures from amino acid…

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We are Heading to ASHG 2023!

Oct 20, 2023

Explore the Newest Developments in Variant Classification and Interpretation Tools at Booth 506 at ASHG 2023 Join Golden Helix at the American Society of Human Genetics (ASHG) 2023 conference and delve into the latest advancements in genetic research. This esteemed event brings together distinguished researchers, clinicians, and industry frontrunners to…

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We are headed overseas to BioJapan 2023!

Oct 5, 2023

As the global biotech community converges on Yokohama for BioJapan 2023, we are thrilled to announce that Golden Helix will be exhibiting at Booth D55. This premier event offers a unique opportunity for industry leaders, researchers, and professionals to come together, collaborate, and drive the future of biotechnology. And for…

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Emerging Insights in Medical Research: Explorations with VarSeq

Sep 28, 2023

Recent advancements in medical research have been pivotal in deepening our understanding of a variety of health conditions. The utilization of tools such as VarSeq in these studies allows for comprehensive genomic analyses, thereby ensuring more accurate diagnoses and facilitating the development of targeted treatments. This blog highlights three recent…

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Using Compute Functions to Validate Variant Assessments

Sep 26, 2023

Recently, a Golden Helix customer reached out to support for advice on how to validate the variant scoring between two different VarSeq users. Here we break down one possible solution as an opportunity to showcase the utility of both the Latest Sample Assessment function and an alternative way to leverage…

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Golden Helix Receives New NIH SBIR Grant  

Sep 26, 2023

Pharmacogenomics Workflow: Identifying Biomarkers and Treatment Options  BOZEMAN, Mont. – Sep. 26, 2023 – Golden Helix, Inc. announced that it was awarded the NIH SBIR Grant 1R43HG013456-01 “Pharmacogenomics Workflow: Identifying Biomarkers and Treatment Options.”  Personalized medicine leveraging pharmacogenomics is gaining momentum to optimize drug choice, dosage, efficacy, and safety for…

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Identifying Oncogenic Variants in VarSeq Webcast

Sep 21, 2023

Traditionally genetic tests in cancer have focused on small gene panels that restrict their analysis to a small number of well-studied cancer genes. However, as sequencing costs have decreased, many clinical laboratories have embraced comprehensive genomic profiling tests that rely on whole exome and whole genome next-generation sequencing (NGS) workflows,…

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Golden Helix is Celebrating 25 Years of Excellence

Sep 19, 2023

Golden Helix Inc. celebrates 25 years as a leader in the genomics landscape. Built on solid Montanan values of work ethic and reliability, our journey began with Dr. Christophe Lambert’s vision in 1998. Our early triumphs in Genome-Wide Association Studies set the stage, but 2013 brought a transformative shift. Under…

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Accessing Report Templates and Simple Modifications

Sep 18, 2023

Your variants of interest have been identified, the SVs annotated, and the CNVs classified. Once the manifest has been imported (and here is a great blog on the subject), the last step is to bring all of this information into a report template! In this blog, we will go over…

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Choosing Bin Sizes for the VarSeq CNV Binned Caller

Sep 14, 2023

Detecting CNVs from whole genome data has a number of advantages but also unique challenges. Whole genomes offer a comprehensive and uniform picture of the entire genome, allowing a user to capture CNVs at a higher resolution than with data sequenced at a lesser scale. It also allows for the…

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Evaluation scripts in VSPipeline: We heard you like automation…

Sep 12, 2023

…so we added some automation to your automation so you can automate while you automate! Automation has been a hot topic recently and for all the right reasons. As we (proudly) watch our customers increase their sample and data volume, we are constantly seeking to provide tools to reduce click…

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Evaluate the use of Evaluation Scripts in your ACMG Workflow!

Sep 5, 2023

Recently, we have written a couple of blogs that were talking about the use of Evaluation Scripts in VSClinical workflows, in particular for the AMP workflow. Evaluation scripts were first introduced to VSClinical AMP in VarSeq 2.3.0 and VarSeq 2.4.0 welcomed evaluation scripts to the ACMG Workflow. Evaluation scripts are…

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Decoding DNA: Unraveling the Genetic Mysteries of Cancer Susceptibility

Aug 31, 2023

In an era where genetics is reshaping our understanding of diseases, recent customer research publications offer invaluable insights, particularly in the realm of cancer. A study titled “Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients” dives into a rare phenotype bridging hereditary…

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VarSeq Assessment Catalogs for Beginners

Aug 29, 2023

Variant interpretation is a critical aspect of any clinical NGS workflow. VarSeq assessment catalogs are a tool used to save variants and associated variant information for easy tracking and retrieval of completed variant interpretations. As variant interpretations stack up and classifications are saved, storing in assessment catalogs makes it easy…

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Interpreting Fusions Variants in VCFs: A Handy Tool

Aug 22, 2023

When interpreting fusions in their VCF format, it is not easy immediately grasp which side of the positions are adjacent in the resulting fusion. When interpreting and troubleshooting fusion variants, I usually find myself reaching for the VCF spec. If you, like me, are looking to speed up this process…

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