Golden Helix Blog

Analyzing Performance of the Twist Exome with CNV Backbone at Various Probe Densities Leveraging Golden Helix VS-CNV Recap

Feb 22, 2024

In our recent webcast, we unveiled the integration of the Twist Bioscience Exome 2.0 Plus Comprehensive Exome Spike-in capture panel with VS-CNV, marking a significant advancement in genetic diagnostics. By addressing the limitations of standard exome kits that miss vast genomic regions, our enhanced panel introduces ‘backbone’ probes for comprehensive…

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Incorporating gnomAD V4 into the ACMG Auto-Classifier

Feb 14, 2024

We at Golden Helix are thrilled with our recent release of gnomAD v4! The curation of this massive database was a huge undertaking for our development team, but with the addition of new features, we believe it was well worth the wait. This annotation track contains allele frequencies from a…

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

Feb 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…

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Golden Helix Received ISO 13485:2016 Certification

Feb 6, 2024

This month, we are excited to announce that we have received the certification for ISO 13485:2016 from TÜV SÜD. ISO 13485:2016 is an international standard that specifies requirements for a quality management system (QMS) for organizations involved in the design, development, production, and servicing of medical devices. It is specifically…

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Exploring the Genetic Frontier: Advances in Understanding Eye Disorders

Jan 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 disorders, 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…

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Using Liftover to Curate GnomAD v4 for GRCh37

Jan 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…

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Advanced Techniques for GenomeBrowse Customization

Jan 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…

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Auto Computation of Coverage Files

Jan 18, 2024

The latest VarSeq release offers enhanced control over genome browse visualization computations. These computations, which are responsible for computing and caching coverage files that create 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…

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

Jan 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…

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Managing Gene Preferences and Preferred Transcripts in VarSeq

Jan 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…

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The Log Tab in VarSeq

Jan 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…

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What to Expect from Golden Helix in 2024

Jan 10, 2024

Happy New Year! I hope that you all were able to enjoy quality time with loved ones over the holidays. 2023 has come to a close, and we would like to take the time to thank you while looking back on a year full of accomplishments. In 2023, we celebrated…

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VarSeq Onboarding and Training Program Now Available!

Jan 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…

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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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