Tag Archives: VarSeq

CIO Bulletin – Innovation Excellence Awards

         March 12, 2024

Leading the Genomic Revolution with VarSeq Suite, Revolutionizing Precision Medicine, and Envisioning a Path for Healthier Tomorrow: Golden Helix Inc We recently were awarded by CIO Bulletin 2024, a winner of their Innovation Excellence Awards. Due to our groundbreaking contributions to the field of precision medicine, this recognition is greatly appreciated. Here’s a summary of the key highlights: In conclusion,… Read more »

Five Ways to Optimize Workflows with VarSeq

         March 7, 2024

There are many ways to optimize an individual workflow, from increasing the granularity of a filter chain to automating certain multi-stepped tasks. Although the best way to optimize an individual workflow is to book a session with our FAS team to talk about your unique use case, we wanted to highlight five ways a workflow can be optimized across most… Read more »

Golden Helix is Launching VSPGx

         February 27, 2024

VSPGx is a pharmacogenomics interpretation software based on CPIC recommendations. The field of pharmacogenetics bridges genetics and pharmacology, with the aim of optimizing drug therapies for individual patients based on their unique genetic makeup. It has the potential to revolutionize healthcare by improving drug efficacy, reducing adverse reactions, and advancing the concept of personalized medicine moving away from a one… Read more »

We Are Heading to Toronto!

         February 27, 2024

Join Golden Helix at the American College of Medical Genetics and Genomics (ACMG) 2024 conference and discover the latest advances in genetic research. This premier event brings together leading researchers, clinicians, and industry experts to share their insights on cutting-edge topics in medical genetics. Stop by our booth for a live demo of our software, learn about the latest features,… Read more »

GnomAD v4 Released: Enhanced Data and Golden Helix Curation for VarSeq Users

         February 7, 2024

The Broad Institute’s release of gnomAD v4 needs no introduction as the data in this release is highly sought after by professionals in the genetics community, and the v4 release has a lot to boast about! The v4 release is roughly five times larger than the v2 and v3 releases combined and includes data from 807,162 total individuals. Naturally, exome… Read more »

Exploring the Genetic Frontier: Advances in Understanding Eye Disorders

         January 30, 2024

Welcome to the exploration of groundbreaking genetic research in ophthalmology. Recent studies have unveiled fascinating insights into the complex interplay between genetics and eye diseases, offering hope and new directions for understanding and treating these conditions. From novel genetic variants linked to microphthalmia and glaucoma to the long-term implications of cataract surgery in childhood, we’re diving into the depths of… Read more »

Using Liftover to Curate GnomAD v4 for GRCh37

         January 25, 2024

We are excited to announce the release of our gnomAD v4 annotation tracks for VarSeq. This version of the GnomAD database represents a significant leap forward, including data from an impressive cohort of over 800,000 individuals — a remarkable 5x expansion compared to the previous releases. Notably, this dataset is comprised of two distinct callsets: exome sequencing data from 730,947… Read more »

Advanced Techniques for GenomeBrowse Customization

         January 23, 2024

Today, we will be exploring the indispensable role of GenomeBrowse in your VarSeq workflows. This blog aims to guide you through various customization options, including color preferences, filtering techniques, display modifications, numeric value plotting, and additional tips. I hope to enhance your GenomeBrowse experience and enable you to gain valuable insights into your data. Let’s jump in by talking about… Read more »

Auto Computation of Coverage Files

         January 18, 2024

The latest VarSeq release offers enhanced control over genome browse visualization computations. These computations, which are responsible for computing and caching the aggregate view of tracks within GenomeBrowse, are now more flexible. Typically, these tracks create files with the “.covtsf” extension and are used for zoomed-out density views of sources like VCFs and BAMs. Previously, the computation would commence automatically… Read more »

Webcast Recap: VarSeq, the Complete Tertiary Platform for Short and Long-Read NGS Data

         January 18, 2024

Many thanks to those who came to view our most recent webcast, From Panels to Genomes with VarSeq: The Complete Tertiary Platform for Short and Long-Read NGS Data. This was a great opportunity for us to showcase the breadth of our workflows, from short-read to long-read, panels to genomes, singleton analysis to families. In this blog, we would like to… Read more »

Managing Gene Preferences and Preferred Transcripts in VarSeq

         January 16, 2024

There are several contextual factors to consider when analyzing genomic data for NGS analyses. A variant may have divergent impacts depending on which transcript of the gene is being considered, or the impact of a variant could be weighed more or less heavily depending on the disease context. Evidently, the user’s gene preferences are very important, but not all software… Read more »

The Log Tab in VarSeq

         January 11, 2024

How long did it take to run coverage regions? Did my colleague update the filter chain like he said he would? Which import options did I use? Where did I save this project? These questions and more can be answered with our little-used VarSeq Log tab. Periodically, our customers come to us with questions in the realm of record keeping,… Read more »

VarSeq Onboarding and Training Program Now Available!

         January 4, 2024

Get your year started off right with Golden Helix’s new VarSeq Onboarding and Training Program! Analysis of NGS data comes with several challenges, but mastery of the data analysis software does not have to be one of them. With this in mind, Golden Helix is pleased to announce that VarSeq Onboarding and Training tools are now available to all our… Read more »

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

         December 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 across various medical scenarios, showcasing its crucial role in advancing… Read more »

Management of Large-Scale Genomic Data with VarSeq Warehouse

         December 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 allows entire teams, including collaborators, to manage various high level aspects of their NGS workflows, such as allele frequency tracking across… Read more »

Exploring VarSeq 2.5.0: Innovations in Somatic Analysis and Cancer Research

         December 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. If you did not get a chance to attend but would still like to see the new upgrades to VarSeq 2.5.0, please visit our website here. Overall, this webcast highlighted the versatility of VarSeq, demonstrating both a Tumor-Normal… Read more »

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

         November 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 Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients Increased genetic… Read more »

Golden Helix CancerKB 3.0: Focus on Cancer Gene Interpretation

         November 28, 2023

I am very excited to announce that a new version of Golden Helix CancerKB has been released! This new version of 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 in CancerKB, I want to give everyone a quick reminder of what… Read more »

Food Allergy Alleles, Right in Time for Thanksgiving!

         November 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 evening. Thankfully, this year Cousin Eddie had recently gotten his… Read more »