Golden Helix Blog

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…

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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…

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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…

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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…

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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 the tertiary stage of analyzing 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…

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Discoveries in Human Medicine Continue Amid the Ongoing Pandemic

Sep 29, 2020

As the world is consumed by the ongoing pandemic, it is easy to forget that there are investigators all around the globe that continue to make important discoveries in human medicine. Below are a few examples that remind us there are those that persevere in their chosen fields of study…

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Controlling Your Preferred Transcripts for Clinical Interpretation

Sep 24, 2020

Did you know you can control your preferred transcript settings for clinical interpretation in VSClinical? Your lab is analyzing the DNA of a tissue sample from a patient with small cell lung cancer. The lab technician has imported the patient data into VSClinical to detect clinically relevant variants and evaluate…

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Advanced Plotting Capabilities with GenomeBrowse

Sep 22, 2020

In this blog update, I’ll be walking you through some of the advanced plotting capabilities with GenomeBrowse. The strategy with any next-gen sequencing analysis is to filter down to interesting variants for either research or clinical conclusion. Golden Helix produces powerful software specifically tailored for this efficient and comprehensive search…

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Variant Analysis of Bechet Disease Using VSClinical

Sep 15, 2020

VSClinical is a feature to evaluate clinically relevant variants according to the ACMG or AMP guidelines. This feature can also be used to identify if a variant has been observed previously or evaluate a manually inserted variant. Take, for example, the scenario where a colleague is interested to see if…

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Webcast Recap: VSClinical: First Commercial Product to Integrate the Updated ACMG Guidelines for CNVs

Sep 15, 2020

In our recent webcast announcing the upcoming release of VarSeq VSClinical and the implementation of the ACMG guidelines for NGS CNVs, we had a number of live questions we didn’t get a chance to cover at the end of the presentation. I will follow up on those questions in this blog post. But first,…

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2020 T-Shirt Design Competition Winners

Sep 8, 2020

We would like to thank everyone who participated in our 2020 t-shirt design competition. It was great to see the amount of creativity our community expressed and was certainly a tough decision to make! We are pleased to announce this year’s winners: First Place – Michaela Lucas Michaela Lucas is…

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Updates to dbSNP 154 v2

Sep 3, 2020

In the 1990s the genetic industry voiced a request for a variant catalog that incorporates associated variant information such as phenotypic and metabolic pathways. The call was answered by NCBI, which created dbSNP; dbSNP became publicly available in 1998 and around 1.5 million variants. Fast forward to the present and…

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Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VSWarehouse

Aug 27, 2020

We have now reached the final blog of the NGS-Solutions for Clinical Variant Analysis series. Part I of this series explored the capture of variant classifications in the VSClinical environment when following the ACMG and AMP guidelines. Part II was similar in content but for the capture of clinically relevant…

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Golden Helix gets full marks in ClinGen’s list of Genomic Analysis Software Platforms

Aug 26, 2020

The potential of genetic testing to impact a patient’s life has been greatly accelerated by the sharing of variant interpretations done by clinical labs in public repositories such as ClinVar. This is not an inevitable outcome, but the persistent work and advocacy of people like Dr. Heidi Rehm and organizations…

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SVS 8.9.0 Release Notes

Aug 24, 2020

SVS 8.9.0 was released on August 19th and features a new GBLUP by Bin feature and a new utility to find the LD scores of markers and categorize them into bins, along with several mixed-model upgrades and many other upgrades, fixes, and polishes. The two new features LD Score Computation…

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Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VarSeq’s CNV Frequency Assessment Catalogs

Aug 20, 2020

Our software solutions and partners have brought dramatic improvements to the secondary and tertiary analysis stages of variant evaluation. Regarding secondary analysis, we’ve discussed increased efficiencies in speed and overall accuracy in the variant calling process with Sentieon. On the tertiary side, we have explored numerous workflows in VarSeq highlighting…

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Golden Helix Announces New Workflow for the Interpretation and Reporting of Copy Number Variants in Concordance with the Recently Updated ACMG Guidelines

Aug 18, 2020

The detection and interpretation of Copy Number Variants (CNVs) is vital for the clinical evaluation of individuals with a wide range of disorders. Golden Helix has remained at the forefront of CNVs in Next-Gen Sequencing (NGS) data since 2016 with the release of VS-CNV, our solution that allows you to…

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New eBook Update: Genetic Data Warehousing – Second Edition

Aug 17, 2020

We’re excited to share the release of a newly updated resource from our CEO, Andreas Scherer, Ph.D. This morning, we published the Second Edition of his eBook, Genetic Data Warehousing, offering an in-depth exploration of how data warehousing technologies are shaping the future of clinical genomics and precision medicine. This…

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Golden Helix’s NGS-Solutions for Clinical Variant Analysis: VSClinical’s Assessment Catalog

Aug 14, 2020

It doesn’t take much effort to find articles discussing the value of Next-Generation Sequencing (NGS). There is a consistent tone amongst authors that implementing NGS pipelines are critical for clinical efficiency in both hereditary disorders and somatic. However, NGS strategies do not come without their own challenges. Challenges include not…

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Golden Helix Named on Inc. 5000 List of Fastest-Growing Private Companies for 2nd Consecutive Year

Aug 12, 2020

Golden Helix has secured its reputation as a global leader in Next-Generation Sequencing (NGS) solutions for over two decades. Today, we are proud to announce that we have been included in the esteemed Inc. 5000 List of rapidly growing American companies. Out of the 6 million businesses in the United…

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