Discover the power of VSClinical’s Interpretation Match Behavior options for managing the scope of somatic variants in cancer reporting, enabling clinical teams to make informed treatment decisions. Multiple interpretations can apply to a single biomarker or tumor type. In some circumstances, a clinical team may only want to report the most relevant and significant biomarker, treatment, diagnosis, or prognosis interpretations… Read more »
Discover powerful WES prenatal workflow examples showcasing the detection of Duchenne Muscular Dystrophy, Gaucher Disease, and Fabry Disease through advanced genetic screening techniques. Our recent Prenatal Genetic Screening with VarSeq webcast focused on using whole exome sequencing for prenatal genetic analysis. This webcast was a hit with our customers, who asked for more information on different filtering chains to identify… Read more »
Hello everyone! I’m Casey Fullem, and I am delighted to announce my recent promotion from Marketing Coordinator to Senior Marketing Manager at Golden Helix. Having had the privilege of contributing to the company’s growth over the past 1.5 years, I am eager to continue driving our success through the application of my analytics-driven marketing expertise. Throughout my time at Golden… Read more »
Explore how Golden Helix products aid groundbreaking studies on orofacial clefts and achromatopsia, showcasing their versatility and enhancing our understanding of these rare conditions. We are always humbled and thrilled to learn how Golden Helix products are being used in the arena of human genetic testing. This month is no exception, as we showcase two very interesting studies. In the… Read more »
Our team at Golden Helix remains committed to advancing genomics and personalized medicine. We actively participate in industry conferences to stay current with the latest developments, such as the recent ACMG 2023 in Salt Lake City, Utah. This event facilitated valuable insights and discussions on several topics. Three key areas of focus included: Whole Exome Sequencing: Whole Exome Sequencing (WES)… Read more »
Discover how soft clip visualization can help you identify structural variants in your research and improve the accuracy of your findings. Soft clipping is a common technique in sequence alignment used to remove bases from the ends of reads that do not align with the reference sequence. Removing these bases typically improves alignment accuracy. However, when multiple reads are soft… Read more »
Explore the cutting-edge capabilities of VarSeq in prenatal genetic screening as we delve into real-life cases, expert analysis, and efficient strategies to quickly assess Whole Exome Sequencing (WES) samples for genetic abnormalities in our recent webinar. Thank you all to those who attended our VarSeq webinar covering prenatal genetic screening! We had a great turnout and loved hearing from our… Read more »
Unlocking the intricacies of fusion representations is crucial for understanding the impact of complex genetic rearrangements on gene function and disease development. In the most recent release of VarSeq, we added support for the import of complex rearrangements from VCF files, which typically encode rearrangements using breakend notation. This powerful notation is capable of describing the full spectrum of structural… Read more »
Enhancing VarSeq Customization and Automation with Visual Studio Code: A Guide to Evaluation and Reporting Scripting Are you as excited as we are about the new automation and customization features we’ve been rolling out with VarSeq’s most recent release, VarSeq 2.3.0? Do your eyes light up at the prospect of automated integration of various data sources into VarSeq’s evaluation and… Read more »
Recent publications have highlighted how Golden Helix’s VarSeq suite of products is enabling researchers and clinicians to conduct complex whole exome sequencing studies, once considered ‘out of reach,’ with ease and precision, resulting in the discovery of new biomarkers and personalized treatment options. It is always with pride that we feature recent publications citing Golden Helix software; this month is… Read more »
Discover the Thrilling Automation Capabilities of VarSeq Suite for NGS Testing and Learn How We’re Tackling Contemporary Lab Challenges First off, I’d like to thank everyone who joined us for our February webcast on the automation capabilities of the VarSeq software suite through VSPipeline. For those of you who joined us, I’m sure it’s obvious that automation is a topic… Read more »
A Step-by-Step Guide to Creating a BED File from RefSeq for Accurate Data Analysis Our FAS team has received a flurry of inquiries recently, asking how to run coverage statistics on their projects without a pre-defined BED file. We’re here to help! To analyze sample coverage statistics, you’ll need a BAM or CRAM file that displays the read depth coverage… Read more »
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 »
