Discover the innovative clinical evidence search of the VSClinical AMP workflow, where patient biomarkers and tumor types are matched to the most relevant data from top sources like CIViC, DrugBank, and Clinical Trials. One of the core features of the VSClinical AMP interpretation workflow is the ability to search third-party data sources to find clinical evidence that matches the patient’s… Read more »
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 getting up to speed with multiple aspects of somatic variant… Read more »
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 regulopathies. In this first study, genetic variants were discovered that… Read more »
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 our very own Golden Helix CancerKB in the context of… Read more »
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 of the biomarker. This is a crucial step in understanding… Read more »
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. At Golden Helix, we have always been committed to innovation… Read more »
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 for the release was focused on the availability and increased… Read more »
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 Map) by only storing the differences between each read and… Read more »
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 evidence, including drug sensitivities, resistances, and previous biomarker interpretations. This… Read more »
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 that others have encountered it as well, and we’ve included… Read more »
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 experiences and accomplishments. During the pandemic, we’ve been using the… Read more »
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 thank you to all of our current partners and customers,… Read more »
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 here. Starting with template creation, our Technical Field Application Scientist,… Read more »
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 to forego one or more aspects of variant normalization. This… Read more »
This November’s 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 the best products we can. This month we are featuring two… Read more »
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 of cohort analysis by discussing Golden Helix’s solution for streamlining… Read more »
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. However, there are many classes of mutation that cannot be… Read more »
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 Biological Sciences, Ph.D. in Biochemistry My experience in STEM started in… Read more »
We are honored to be awarded and recognized in this year’s BioTech Breakthrough Awards. “Advances in biological sciences, combined with accelerating development of computing, data processing, and AI are fueling a new wave of innovation in the healthcare sector. These advances are providing new understanding, new materials, new tools, as well as lower costs. We’re seeing trends in use of… Read more »
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 somatic and germline workflows. Hence, consistent and auditable methods for… Read more »
