Category Archives: About Golden Helix

2022 Innovation Awards

         December 1, 2021

We at Golden Helix love seeing our software and solutions out in action. Whether it is to find a clinical solution or to assist in academic research, seeing YOU use our tools to the best of their ability gets us excited to continue developing industry-leading software. For the 2022 Innovation Awards we would like to see all the creative and… Read more »

Breaking Down ACMG CNV Guidelines in VSClinical

         November 25, 2021

In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different criteria which are arranged into five distinct sections. These extensive… Read more »

Customer Publications in October 2021

         October 28, 2021
varseq customer publications October 2021

The customer-published articles this October cite the range of Golden Helix’s VarSeq annotation range and capability. The following publications feature everything from annotating an Italian nobleman mummy, assisting in identifying mutations in primary congenital and juvenile glaucoma, new mutations associated with muscular dystrophinopathy, and germline variants associated with head and neck cancer. In each of these cases, VarSeq was utilized… Read more »

Customer Publications in September 2021

         September 30, 2021
customer

September’s published articles citing Golden Helix software serve as a testament to our product’s broad applications and utility in NGS data analysis. We are always proud of our customers and the contributions they make to advancing scientific discovery and are grateful to be included in their research. This month, we were treated to publications from all over the globe showing… Read more »

Updates to Somatic Variant Annotation and a New Way to Evaluate Fusions in VSClinical

         September 29, 2021
ClinVar

With the release of VarSeq 2.2.4 just around the corner, I want to detail some new 2.2.4 features that will enhance somatic variant annotation and fusion analysis within VSClinical. A webcast back in July showed some of these updates in action, so if you are looking for some more content on this topic, I would highly recommend checking out the… Read more »

2021 End of Year Pricing Packages

         September 28, 2021
VarSeq PowerPack

For the third year in a row, Golden Helix has been included on the Inc 5000 List. Without our amazing customers and partners, this award would not have been possible. We all know that the world is seeing significant increases in daily expenses. Our company has been able to absorb these increases by expanding its market share around the world. We… Read more »

Customizing VSClinical Reports with New Output Types

         September 23, 2021

Golden Helix VSClinical provides a guided workflow interface for following the ACMG and AMP guidelines to evaluate variants and CNVs for NGS tests. The output of this work is most often a lab-specific clinical report. Since it was introduced, we have provided a powerful Word-based templating system to allow labs to customize reports to include specific content and branding. Recently… Read more »

Updates to ClinVar Curation to Include More Pathogenic Variants

         September 14, 2021

In the September 2021 monthly update to our curated ClinVar track, we made some changes that will result in roughly another 7,000 Likely Pathogenic and Pathogenic variants being available for annotation and use in the ACMG auto-classification system.  Consensus Between Labs  ClinVar has nearly one million unique variant classification records that are curated into multiple annotation tracks used in VarSeq and VSClinical on a monthly basis. Clinical… Read more »

Case Study with LifeCell International: Transforming Precision Medicine in India

         September 13, 2021

Established in 2004 and headquartered in Chennai, India, with regional centers across the country, LifeCell runs India’s largest stem cell bank and has also diversified into diagnostics and tissue therapeutics. They employ roughly 2,000 people, providing genetic services to customers in the mother and baby space. Phani Nagaraja Setty is working as a scientist at LifeCell. Setty obtained his Master’s… Read more »

2021 T-Shirt Design Competition Winners

         September 2, 2021
T-Shirt Design Competition

We would like to thank everyone who participated in our 2021 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 – Bruce Eng For over 35 years, Bruce Eng has partnered with businesses, educational institutions, and… Read more »

Customer Publications for August 2021

         August 31, 2021
customer

Welcome to the August edition of our customer publications blog post! Each month we spotlight a few recently published articles by our incredible Golden Helix customers. With users spanning both research and clinical spaces, the topics vary widely across many fields. This month, we will be highlighting users of VSClinical’s guided workflow. Host Genetics and Antiviral Immune Responses in Adult… Read more »

ESHG 2021 Corporate Satellite Talks

         August 26, 2021
ESHG

Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun, 29 August, 14:00-15:00. This will be moderated by Golden Helix… Read more »

Efficient Gene Panel Utilization in VarSeq

         August 24, 2021

Clinical diagnostic efforts in next-generation sequencing are commonly defined at a gene panel level. The validation process of adding new genes to any diagnostic panel is ongoing, but labs typically construct and validate their clinical workflows for the current status of verified genes. This is not limited to primary finding results but can also include any incidental findings among the… Read more »

Manage gene lists across projects with VarSeq and VSClinical

         August 18, 2021

Clinical labs often maintain gene panels, which are lists of genes with evidence of disease association. These panels are used to prioritize variants and limit interpretations to a predefined set of test-specific genes. In general, gene panels should be stored independently of any specific project or interpretation, as it is common for an individual gene panel to be generally applicable… Read more »

How a neonate’s rash can be one of your most important pieces of data: making phenotypic info statistically tractable for clinical diagnostics

         August 5, 2021

I remember visiting a patient in the NICU amongst the incubators, some glowing blue like tiny tanning beds to treat jaundice, all containing tiny humans – many smaller than a loaf of bread. Infants get admitted into the neonatal intensive care unit or NICU for many reasons ranging from elevated bilirubin, hypoglycemia, sepsis, and respiratory distress (RDS). Many are eventually… Read more »

Customer Publications in July 2021

         July 29, 2021

In this month’s Customer Publication blog, I will highlight four studies that provided further insights into conditions that are typically identified in early childhood. As you will see as you read the summaries of each publication, both Golden Helix software platforms (VarSeq and SNP & Variation Suite or SVS for short) were instrumental in exploring the genetic factors that influence… Read more »

Leveraging expert-curated variant interpretations using VSClinical

         July 27, 2021
Clinical Genome Resource

This blog post will cover an exciting new VSClinical feature in the upcoming VarSeq release. The ACMG Previously Interpreted Variants feature allows users to integrate databases of expert-curated variant interpretations into their VSClinical workflows. These data sources store variant-level interpretation data, including the classification, associated disorders, interpretation text, and scored criteria for each variant, along with notes providing a justification… Read more »

Highlights from “Reduce Turn-Around with Enhanced Cancer Annotations and CancerKB Updates”

         July 22, 2021

We had a wonderful turnout for our recent webcast, “Reduce Turn-Around with Enhanced Cancer Annotations & CancerKB Updates.” Thanks so much to those who were able to join us! And not to worry, we have a link to the recording here just in case you weren’t able to make it. We covered the gamut of new and updated annotation tracks available in VarSeq along with the… Read more »

Golden Helix named to 10 Innovative Biotechnology Solution Companies for 2021

         July 19, 2021
Top 10

We are honored to be selected as MirrorReview’s 10 Innovative Biotechnology Solution Companies for 2021. This award would not be possible without the incredible support from our customers and partners. Thank you to our entire community! If you are interested in reading our story, and why we were selected for this award, you can access the publication here: https://www.mirrorreview.com/golden-helix-pioneering-bioinformatics-solutions/. “Biotechnology… Read more »