Golden Helix Blog

VarSeq in Action: Deciphering Complex Genetic Puzzles in Immune Thrombocytopenia, Glaucoma, and Rare Syndromes

Dec 31, 2023

In this blog, we explore the impactful applications of VarSeq in genetic research and diagnostics. Through case studies, we examine its role in diverse conditions like Immune Mediated Thrombocytopenia (ITP), glaucoma, and Cri du Chat syndrome. These studies demonstrate VarSeq’s capability in identifying genetic variants and influencing diagnosis and treatment…

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Polygenic Risk Scores Analysis in SVS 8.10 Release

Dec 21, 2023

Thank you to those who attended our recent webcast on Golden Helix’s SNP & Variation Suite (SVS) and its new capability related to Polygenic Risk Scores (PRS). If you were unable to attend, a recording can be found via this link. For common diseases, PRS can provide a predictive value…

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Management of Large-Scale Genomic Data with VarSeq Warehouse

Dec 14, 2023

VarSeq Warehouse is the solution provided by Golden Helix for management of large-scale genomic data. It serves a centralized, indexed variant repository that stores variants and assessments from selected samples or projects. Management of large-scale genomic data with VSWarehouse enables entire teams, including collaborators, to oversee key aspects of their…

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Exploring VarSeq 2.5.0: Innovations in Somatic Analysis and Cancer Research

Dec 5, 2023

Thank you to all our viewers who attended our webcast last week on VarSeq 2.5.0: VSClinical AMP Workflow from the User Perspective. Overall, this webcast highlighted the versatility of VarSeq, demonstrating both a Tumor-Normal somatic workflow and a singleton somatic analysis. In addition, we got to see the utility of…

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Decoding Complex Genetics: VarSeq’s Pivotal Role in Melanoma and Autism Spectrum Disorder Research

Nov 30, 2023

In the rapidly evolving field of genetic research, VarSeq software by Golden Helix stands out as a powerful tool for genetic analysis and interpretation. This is exemplified in two significant customer publications that demonstrate the versatility and impact of VarSeq in advancing our understanding of complex genetic disorders. Characterization of…

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Golden Helix CancerKB 3.0: Focus on Cancer Gene Interpretation

Nov 28, 2023

I am very excited to announce that a new version of Golden Helix CancerKB has been released! This new version of Golden Helix CancerKB comes with some exciting upgrades bolstering the gene interpretations and cancer gene evidence. Before I jump into the details of the new information that is now…

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Food Allergy Alleles, Right in Time for Thanksgiving!

Nov 21, 2023

The table is set, the football game is on in the background, and the family has gathered around the table when out of nowhere, your Cousin Eddie shows up for Thanksgiving dinner. While Cousin Eddie is known for eating anything, his allergies always get the best of him, ruining the…

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Sentieon’s Latest Enhancements Powering VarSeq 2.5.0: Accelerating Clinical Workflows and Data Analysis in NGS

Nov 16, 2023

With the release of VarSeq 2.5.0, Golden Helix customers can now perform an unprecedented number of workflows within a single software suite. Carrier status analysis, multi-sample clinical workflows, and a built-in oncogenicity scorer augment the already diverse and robust set of tools encompassed by VarSeq. In addition, we have continued…

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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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