Golden Helix Blog

Golden Helix Featured in Numerous Publications 2020

Jan 12, 2021

Golden Helix continues to innovate and grow, and due to this, we have been garnering attention and praise. We are thrilled to share with you some of the accolades and interest from numerous publications from the last six months. Talking points ranged from diagnosing and tracking Covid-19 infections leveraging NGS…

Read more →

ACGS Guidelines Now Available in VSClinical

Jan 7, 2021

Golden Helix offers a market-leading bioinformatics solution that allows users to evaluate next-generation sequencing variants according to the ACMG and now ACGS guidelines. The ACMG guidelines were created in 2015 and are widely accepted as best practice for the interpretation of sequencing variants throughout the United States (Richard et al…

Read more →

What to expect from Golden Helix in 2021

Jan 1, 2021

Happy New Year! I hope you had an opportunity to relax over the holidays with your family and friends. It’s time to start talking about our plans for the New Year, but first, please allow me to review a few highlights from 2020 that helped build a foundation for our…

Read more →

Featured in The Journal of Precision Medicine: Golden Helix’s Recent Release for a New Workflow for Interpretating and Reporting Copy Number Variants in Concordance with the Recently Updated ACMG Guidelines: Introduction

Dec 28, 2020

Have you seen us in The Journal of Precision Medicine? Last week, our team released VarSeq 2.2.2 loaded with a number of updates and VSClinical’s highly-anticipated ACMG-CNV Guideline workflow! We have spent the past several months sharing webcasts and blogs on this new capability. We are honored to also have…

Read more →

Customer Publications Featuring VarSeq December 2020

Dec 23, 2020

Reading scientific articles that our customers have recently published is one of my favorite things here at Golden Helix. It is fascinating to learn about the research and to see the various ways our software gets put to the test.Since we are rolling out our most extensive VarSeq update yet,…

Read more →

Updated Annotations: RefSeq with MANE Select Transcripts

Dec 17, 2020

Our upcoming release of VarSeq is one of the largest we’ve ever had with our software! It comes with an extensive list of polishes and new features like our recently mentioned ACMG CNV classifier and a redesigned reporting interface with updated templates. Additionally, this new release is also paired with…

Read more →

Need Coverage Statistics? VarSeq Has You Covered!

Dec 15, 2020

Curious about how coverage statistics can be used in conjunction with VarSeq? Evaluating the coverage over target regions or whole genomes is essential whether you are working with variant or CNV analysis. VarSeq has had the capability to compute sample level coverage statistics for some time now, but in the…

Read more →

Adding Population Catalogs to VSClinical

Dec 10, 2020

Our previous webcast demonstrated some of the new functionalities of VSClinical, including the ability to add ACMG frequency sources for the ACMG BA1, BS1, and PM2 criteria. This new feature was spurred by the feedback from our users, which requested supporting frequency tracks other than gnomAD Exomes and 1kG Phase3.…

Read more →

Webcast Recap: Exploring New Features and Clinical Reports in the ACMG Guideline Workflow

Dec 3, 2020

Webcast Recap In the recent webcast “Exploring New Features and Clinical Reports in the ACMG Guideline Workflow”, Gabe and I took viewers through an evaluation with CNVs and SNVs according to the ACMG Guidelines where we generated and customized a clinical report. Along the way, we highlighted many new features…

Read more →

Loss-of-Function Splice Variant in MTHFR

Nov 26, 2020

In this blog post, I will be analyzing a loss-of-function splice variant in MTHFR using VarSeq. In the search for clinically relevant variants contributing to rare disorders, efficient filtering strategies are an important step in eliminating disinteresting variants. VarSeq supports end-to-end rare disease analysis, from panel-level filtering to clinical variant…

Read more →

Webcast Follow-up: Evaluating CNVs with VSClinical’s New ACMG Guidelines

Nov 19, 2020

In our previous webcast, Evaluating CNVs with VSClinical’s New ACMG Guidelines, we focused on a CNV deletion (12:27715515-29628122×1) in which the patient had a known disorder called Brachydactyly type E. The CNV was isolated using our VS-CNV caller and applied to the ACMG CNV guidelines using the intuitive steps of…

Read more →

New Algorithm: Variants Matching Current Sample

Nov 12, 2020

Those of you who have been attending our recent webcasts have learned about our upcoming VarSeq release. A part of that release will be an additional algorithm that will annotate variants matching the current sample. If you are not familiar with these webcasts, here are several on-demand webcasts I recommend…

Read more →

Webcast Recap: Evaluation of CNVs with VSClinical’s New ACMG Guideline Workflow

Nov 10, 2020

In the webcast, Evaluation of Copy Number Variants with VSClinical’s New ACMG Guideline Workflow, we discussed how VSClinical implements Section 4 of the ACMG guidelines. Specifically, we focused on integrating literature and publications to assess the pathogenicity of a CNV event when there was a lack of dosage sensitivity information.…

Read more →

Updated Annotation: BRCA Exchange

Oct 30, 2020

Our team is regularly updating and curating annotations, most recently the BRCA Exchange. Breast cancer is known to occur in approximately 10% of the female population and if there is a damaging mutation in the breast cancer gene (BRCA), that rate increases to 65%. Understanding and managing hereditary cancer risk…

Read more →

Golden Helix’s Virtual 2020 Conference Booth

Oct 27, 2020

In lieu of conferences making the absolutely necessary decision to cancel this year’s conference, we created our Virtual 2020 Conference Booth! Even though it will never compare to the real deal, we hope you enjoy this blog post containing a few events we had planned this year. To start, let…

Read more →

Upcoming VS-CNV Update: CNV Event Reporting with ACMG Guidelines

Oct 22, 2020

Golden Helix is excited to release an upcoming VSClinical feature that allows users to analyze next-generation sequencing (NGS) CNV event reporting with ACMG guidelines. This feature will be the first in the NGS workspace to allow this capability and if you are curious about the functionalities you can get a…

Read more →

Example De Novo CNV in Cardiomyopathy Panel

Oct 20, 2020

In a recent webcast, users were exposed to some new features upcoming in the next release of VarSeq. In this update, we will use an example de Novo CNV in a cardiomyopathy panel in VarSeq. There is a long list of new tools and polishes to the software but one…

Read more →

Webcast Recap: A User’s Perspective: ACMG Guidelines for CNVs in VSClinical

Oct 16, 2020

Our previous webcast from VP Gabe Rudy in September exposed us to some fundamentals of this years’ updated Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). This…

Read more →

Annotate Your VarSeq Projects with REVEL

Oct 6, 2020

Typically, researchers are looking for rare variants in their next-generation sequencing datasets. However, most of the nonsynonymous variants have unknown significance because there is an inherent difficulty in validating large numbers of rare variants or even detecting rare variants with high statistical power. In lieu of this issue, computational tools…

Read more →

VarSeq’s NGS Panel Workflow: COL4A2 Variant from an Intellectual Disability Panel

Oct 1, 2020

A common discussion with our customers includes the challenges with tertiary analysis of next-gen sequencing data. This is the stage where all data from gene panels, exome, or whole genome scale pass through filters to quickly isolate the clinically relevant variant contributing to a patient disorder. Golden Helix has recognized…

Read more →