Author Archives: Golden Helix

Summer 2021 Software Specials

         May 25, 2021
Special Offer

Summer is quickly approaching, which heralds the return of our summer software specials! Golden Helix will be offering a limited number of the following deals through June 30th, 2021. Here is a snapshot of what is being offered: VarSeq w/ CADD & OMIM (3-users) – $8,995 | (3 available) Our filtering and annotating product, VarSeq, paired with premium annotations. VSClinical,… Read more »

Featured in The Journal of Precision Medicine: Implementing the ACMG Guidelines for CNV in a Commercial Software Solution

         April 8, 2021

We are excited to share our latest publication with The Journal of Precision Medicine, “Implementing the ACMG Guidelines for CNV in a Commercial Software Solution”. “In 2020, ACMG in collaboration with the ClinGen working group developed a new set of guidelines for the clinical interpretation of CNVs. While theseguidelines provide a robust set of rules for interpreting intragenic deletions and… Read more »

2021 Abstract Competition Winners

         March 16, 2021
2020 Abstract Competition Winners

We would like to thank everyone who entered our 2021 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Viney Gupta – All India Institute of Medical Sciences – AIIMS Digenic Inheritance in Juvenile Open-AngleGlaucoma Sign up for… Read more »

Golden Helix’s Virtual 2020 Conference Booth

         October 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 us paint the picture with some of our favorite conference… Read more »

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

         August 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 both detect and analyze CNVs directly from NGS data. Earlier… Read more »

Coping Mechanisms in the COVID-19 World

         June 4, 2020
Working from home

Like many of you, I was supposed to attend the 2020 ACMG Meeting in San Antonio this March with a few colleagues. In addition to attending the conference, my first blog post for Golden Helix was going to be about our time at the conference. Thanks to the world-wide COVID-19 pandemic, none of us got to attend the conference. (We… Read more »

Golden Helix Recognized in GHP Magazine’s 2020 Biotechnology Awards

         April 14, 2020

We are honored to be recognized in this year’s 2020 Biotechnology Awards by GHP Magazine – thank you! Find the full list of winners here. “Covering a variety of verticals, including bio agriculture, bio services, bio industrial and biopharmaceutical, the biotechnology market are under the microscope in Global Health & Pharma’s Biotechnology Awards. Boasting impressive market value growth with no… Read more »

VarSeq 2.2.1 Release Notes

         April 10, 2020
ClinVar

VarSeq 2.2.1 was released on April 1st and features an upgraded gene annotation capability with new RefSeq genes tracks and an AMP workflow addition: the Drugs and Trials tab. The new RefSeq human genome genes tracks contain updated gene names and the recognition of any MANE (Matched Annotation from NCBI and EMBL-EBI) identified transcripts. VarSeq has been updated to be… Read more »

Golden Helix Named as Top 10 World’s Most Trust Worthy Bioanalysis Companies in 2020

         March 13, 2020

Today, CIO Look announced their collection of the Top 10 World’s Most Trust Worthy Bioanalysis Companies in 2020. We are incredibly honored to have received this award and being recognized amongst the top biotech companies! You can access the publication here: https://ciolook.com/golden-helix-inc-empowering-healthcare-organizations-with-industry-leading-next-generation-sequencing-analysis-software/. As always, we would not be receiving this recognition without the incredible support from our community. Thank you… Read more »

2020 Abstract Competition Winners

         February 18, 2020
2020 Abstract Competition Winners

We would like to thank everyone who entered our 2020 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Dr. Robert Hamilton and Priyanka Kugamoorthy – SickKids Yearly Clinical Review of a Patient’s WGS Results Leads to a… Read more »

The New VSClinical ACMG Guidelines Tutorial

         November 21, 2019

Our tutorials are a popular resource for prospective users. We have added a tutorial to help introduce customers to the ease and utility of the ACMG Guidelines incorporated in VSClinical. The ACMG Guidelines are a collection of 33 criteria that are used to determine a variant’s level of pathogenicity. VSClinical and VarSeq make it easy for users to sort and… Read more »

All New VSClinical AMP Workflow Tutorial

         November 5, 2019

We have recently added a tutorial to help introduce customers to the ease and utility of the AMP Guidelines incorporated in VarSeq’s VSClinical package. The AMP Guidelines allow users to sort through available clinical evidence in a streamlined fashion to arrive at final classification and interpretation and then transfer that information into a clinical report. And the AMP Guidelines also… Read more »

Updating Somatic Annotation Catalogs: ICGC and COSMIC

         October 28, 2019

Golden Helix works to keep incorporating and updating great somatic annotation catalogs for our VSClinical users. We currently have the updated version of one of the largest cancer databases from the International Cancer Genome Consortium, or ICGC. Version 28 has been improved by integrating ClinVar and CIViC clinical annotations, and as always, increasing the number of mutations listed. The current… Read more »

VarSeq 2.2.0 Release Notes

         October 23, 2019
ClinVar

VarSeq 2.2.0 was released today and this a stable release full of upgrades and polishes. Some of the newer features include the ability to store and include AMP Cancer assessment catalogs on VSWarehouse, quicker accessibility to common annotations plotted in GenomeBrowse, and the addition of all of our standard templates for the GRCh38 genome assembly. Many of the polishes were… Read more »

Getting the most out of Sentieon

         September 26, 2019
Sentieon

Customers are always asking for ways to improve their experience with Sentieon, our partner’s secondary analysis tools that process genomics data with high computing efficiency, fast turnaround time, exceptional accuracy and 100% consistency. We have a few tips to get the most out of Sentieon. In this article I will be going over: Basic system requirements Custom scripts vs default… Read more »

Updated Annotations: The new and improved gnomAD 2.1.1

         September 19, 2019

The Broad Institute team led by Dan MacArthur announced the release of gnomAD version 2.1 at last year’s ASHG conference. This new version boasted data from 125,748 exomes and 15,708 genomes, but the greater updates were the improved QC refinement and more discrete sub-population break downs. Although the majority of samples were counted in the previous 2.0.2 release, the additional… Read more »

Summer AMP Sale

         August 19, 2019

We are offering a limited number of AMP-focused, 15-month license packs all summer long! The individualized nature of tumors requires genomic testing for providing the best outcomes for patients. Next-Gen Sequencing enables the detection of small mutations, copy number changes, and common fusions affordably and with high precision. However, the interpretation of these detected variants is arduous without a comprehensive… Read more »

2019 T-Shirt Design Competition Winners

         August 15, 2019
T-Shirt Design Competition

We would like to thank everyone who participated in our 2019 t-shirt design competition. It was great to see the amount of creativity our community expressed! We are pleased to announce this year’s winners: First Place – Dr. Marina Trigueros Dr. Marina Trigueros is a Science Illustrator and 3D Animator at Cariboo Design, a studio devoted to explaining scientific topics… Read more »

Shared Data in VarSeq

         July 22, 2019

When using VarSeq; annotations, application settings, and assessment catalogs are all stored locally. Sometimes these resources can grow to large space grabbing directories, causing you to either purchase additional storage devices or getting rid of previously downloaded resources you might need down the road. But there’s hope! You can set where you want all of your data stored to be… Read more »

VarSeq Variant Annotation Normalization

         July 18, 2019

Smoothing Hurdles into Speed Bumps when creating Annotation Sources Although most researchers assume that getting the pile of VCF sequence files is the largest hurdle in moving towards an analysis, there still exists the looming step of normalizing the variant calls in annotation sources to make variant comparison easier. In this ever-refining field of study, VarSeq continually works to increase… Read more »