Golden Helix Blog

A New Comprehensive Template for Somatic Variant Annotation and Filtering in VarSeq

Feb 2, 2023

Revolutionize Your Somatic Variant Analysis with Our Cutting-Edge Template for Annotation and Filtering in VarSeq Golden Helix is excited to share our new Comprehensive Cancer Template for somatic variant annotation and filtering, along with the latest version of our software VarSeq 2.3.0! Our latest VarSeq update was specifically focused on…

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Highlighting Customer Publications: January 2023

Jan 31, 2023

This month we are thrilled once again to highlight two publications in which VarSeq plays an important role in the genetic testing pipeline.  The continuing advances in Next Generation Sequencing (NGS) are assisting researchers and clinicians in gaining a deeper understanding of complex human syndromes, often referred to as congenital…

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Maximizing Cancer Care with Golden Helix CancerKB 2.0: Unveiling the Latest in Precision Medicine

Jan 26, 2023

Our recent webcast, Maximizing the Benefits of Comprehensive Genomic Testing in Cancer Care with Golden Helix CancerKB 2.0, was an opportunity to unveil Golden Helix CancerKB v2.0. Our latest VarSeq release was designed to address the changing landscape of cancer genomics, and in this webcast, we discussed the application of…

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AMP Manual Deep Dive: VSClinical’s Interpretation for Cancer Biomarker Annotation

Jan 24, 2023

VSClinical AMP Matching of Interpretations  In this blog post, we will delve into the intricacies of the VSClinical AMP interpretation workflow. At the heart of this process lies the task of annotating cancer biomarkers with the correct interpretations based on the classification of the tumor and the type and scope…

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Golden Helix named as a Best Global Bioinformatics Firm of 2023 by the Corporate Excellence Awards

Jan 19, 2023

We are thrilled to announce that our company has been named the Best Global Bioinformatics Firm of 2023 by the Corporate Excellence Awards. This recognition is a testament to the hard work and dedication of our team, who are committed to delivering the highest quality bioinformatics solutions to our customers.…

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VarSeq 2.3.0: A Comprehensive Look at the Revolutionary Cancer Genomic Profiling Solution’s New Features and Advancements

Jan 18, 2023

Discover the latest advancements in cancer genomic profiling with the release of VarSeq 2.3.0 We are very excited to announce the release of VarSeq 2.3.0! This release was one of the largest VarSeq releases yet, as it includes a large refactor to the VSClinical AMP cancer module. A primary motivation…

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Exploring the CRAM File Format in VarSeq 2.3.0

Jan 17, 2023

Unlocking the Potential of CRAM Files: The New VarSeq 2.3.0 Release for Enhanced Plotting, Coverage Analysis, and CNV Detection The CRAM (Compressed Reference-oriented Alignment Map) file format was conceived in 2011 as a more space-efficient way to store alignment data. It saves space over the previous standard BAM (Binary Alignment…

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Improve Your Research with the Latest Cancer Ontology Updates

Jan 10, 2023

Learn about the latest cancer ontology software updates and how they can enhance your research and work. Cancer Ontology An important feature of the VSClinical AMP workflow is the ability to select the correct tumor type for a given evaluation. The selected tumor type is used to identify relevant clinical…

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4 Essential Support Resources for Golden Helix Software Users

Jan 5, 2023

Golden Helix provides extensive resources to help our users who are just getting started and address any issues they may encounter as they become more familiar with our software. Our resources are constantly updated and are tailored to the needs of our users. If you’re facing a problem, it’s likely…

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What to Expect from Golden Helix in 2023 

Jan 2, 2023

Happy New Year! I hope that you all were able to enjoy quality time with your loved ones over the holidays. Now that 2022 has come to a close, we would like to take the time to say thank you while looking back on a big year full of new…

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Customer Publications for December 2022

Dec 30, 2022

Researchers and clinicians alike utilize our software to progress diagnostic capabilities across the globe. Our tools are continuously validated, and below is a showcase of a few articles this month that demonstrate the range of uses. This is our final customer publications blog of 2022; I would like to say…

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Webcast Recap: Somatic Variant Analysis in VarSeq 2.3.0

Dec 22, 2022

Our FAS team would like to thank everyone who attended our December 2022 webcast, A User’s Perspective: Somatic Variant Analysis in VarSeq 2.3.0. This webcast allowed three members of our FAS team to give their unique insights concerning the improvements to our new VarSeq 2.3.0 release, which will be recapped…

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Variant Normalization – Choosing When to Split Multinucleotide Variants Into Allelic Primitives.

Dec 20, 2022

Variant normalization is essentially reducing the representation of a variant to its canonical representation. Variant normalization ensures that the way a variant is represented is parsimonious and left-aligned and can also refer to splitting variants into their allelic primitives. VarSeq normalizes variants by default, but we offer users the option…

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Customer Publications – November 2022

Nov 30, 2022

This November 2022, published articles citing Golden Helix software serve as a testament to our broad application and utility in NGS data analysis. We are always proud of our customers and the contributions they make to scientific discovery. Their continued work and research are motivators for us to continue delivering…

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Streamlining Variant Analysis for Large Genetic Cohorts: Part 2

Nov 29, 2022

The last blog in this series covered streamlining variant analysis for large genetic cohorts, namely case-control studies, on a single-project basis. The reality when dealing with big data is that you often do not handle a high volume project all at once. Therefore, we will follow up on the topic…

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Webcast Recap: VarSeq 2.3.0: Supporting the Full Spectrum of Genomic Variation

Nov 22, 2022

Thank you to everyone who joined us for our webcast on the upcoming VarSeq features supporting the full spectrum of genomic variation! Traditionally, NGS cancer testing started with small gene panels that looked at a small set of the most common genes to identify small mutations, such as BRAF V600E.…

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Women in STEM: Golden Helix Employees

Nov 10, 2022

Here at Golden Helix, we would like to take a moment and highlight some of our amazing and talented women in STEM! Below are short excerpts from some of our own Golden Helix employees and their experiences both in STEM and here at Golden Helix.   Rana Smalling Field Application Scientist B.A. in…

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Golden Helix Announced BioTech Company of the Year by BioTech Breakthrough

Nov 4, 2022

We are honored to be awarded and recognized with this year’s BioTech Breakthrough Award, a prestigious accolade that highlights excellence and innovation across the biotechnology industry. At Golden Helix, we take immense pride in providing robust, user-friendly solutions that help researchers and clinicians translate complex genetic data into meaningful insights.…

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ACMG Auto Classifier: Variant Site or Sample Classifier?

Nov 1, 2022

The ACMG classification guidelines for variant pathogenicity are as ubiquitous as they are complicated to implement. They play a consistent and evolving role in the standard workflows of many experts in the next-generation sequencing field, both in the clinical and research space. Furthermore, they can be effectively applied in both…

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Heading to Phoenix, AZ for AMP 2022

Nov 1, 2022

The Golden Helix team is headed off to Phoenix, AZ for the Association for Molecular Pathology Annual Meeting & Expo (AMP) 2022. We are enthusiastically awaiting a week of genetics discussions with new and familiar faces. If you are attending, please stop by our booth and say hello! We will…

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