Search Results for: Report

VarSeq 2.4.0 Has Been Released!

         May 24, 2023

Greetings VarSeq users! VarSeq 2.4.0 has officially been released. VarSeq 2.4.0 is a significant release that focuses on enhancing the VSClinical ACMG workflow by introducing new features and noteworthy improvements. The major highlights of the release are: 1. Welcoming structural variant support to the VSClinical ACMG workflow 2. ACMG workflow automation has been enhanced via the application of evaluation scripts… Read more »

Webcast Recap: VarSeq 2.4.0: Structural Variants and Advanced Automation in VSClinical ACMG

         May 22, 2023

In our recent webcast, we discussed the exciting new features of VarSeq 2.4.0 and the updated VSClinical interface. The discussion was centered around three main topics: In summary, VarSeq 2.4.0 uniquely supports the analysis of all variant types in the clinical interpretation workflow. By incorporating structural variants, enhancing automation, and empowering users to handle complex data, it offers a comprehensive… Read more »

ACMG STRIKES BACK

         May 4, 2023

Use the force of evaluation scripts to automate and customize your VSClinical ACMG workflow in VarSeq 2.4.0. VarSeq 2.3.0 came packed with new features! Most notably, VarSeq variant analysis expanded to support the import and annotation of structural variant files, and the AMP cancer workflow in VSClinical gained new functionality with the addition of evaluation scripts which help automate and… Read more »

Exploring Genetic Frontiers: Customer Publications on VarSeq-Powered NGS Analysis in Pompe Disease and Developmental Dyslexia

         April 27, 2023

These customer publications highlight our platform’s versatility in transforming NGS analysis for Late-Onset Pompe Disease and Developmental Dyslexia, leading to breakthroughs in comprehending complex genetic disorders and enabling novel treatment avenues. The versatility of our VarSeq platform is in full bloom this spring! Below are two examples of the scalability of our software as well as the complex analysis that… Read more »

Unraveling Structural Variants with VarSeq: A Comprehensive Workflow

         April 18, 2023

Unlock the potential of VarSeq for efficient analysis of structural variants, providing robust annotation, filtering, and interpretation of intricate genetic variations. While the analysis of structural variants (SVs) is crucial for understanding the genetic basis of disease, the process of interpreting these variations can be a challenging and complex task. Structural variant callers typically store rearrangements in VCF files, which… Read more »

WES Prenatal Workflow Examples: Exploring Duchenne Muscular Dystrophy, Gaucher Disease, and Fabry Disease in Genetic Screening

         April 11, 2023

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 »

Prenatal Genetic Screening with VarSeq Webinar Highlights

         March 16, 2023

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 »

VarSeq Customization and Automation with VSCode

         March 9, 2023
VarSeq Customization and Automation with VSCode Blog

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 »

We Are Headed to ACMG 2023!

         March 7, 2023

Discover the Latest Advances in Variant Classification and Interpretation Tools at Golden Helix’s Booth at ACMG 2023 We are excited to announce that Golden Helix will be attending the American College of Medical Genetics and Genomics (ACMG) 2023 conference in March! We can’t wait to connect with leading healthcare professionals and researchers in the field of genetics at this premier… Read more »

Revolutionizing Whole Exome Sequencing: VarSeq Powers Complex Analysis Data in Recent Publications!

         February 23, 2023
Revolutionizing Whole Exome Sequencing VarSeq Powers Complex Analysis Data in Recent Publications! icon

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 »

Creating a BED File from RefSeq: A Comprehensive Guide for Accurate Data Analysis

         February 14, 2023

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 »

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

         February 2, 2023
A New Comprehensive Template for Somatic Variant Annotation and Filtering in VarSeq icon

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 »

Highlighting Customer Publications: January 2023

         January 31, 2023
Highlighting Customer Publications January 2023 icon

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 »

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

         January 26, 2023
Maximizing Cancer Care with Golden Helix CancerKB 2.0 Unveiling the Latest in Precision Medicine icon

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 »

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

         January 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 of the biomarker. This is a crucial step in understanding… Read more »

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

         January 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 for the release was focused on the availability and increased… Read more »

Customer Publications for December 2022

         December 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 thank you to all of our current partners and customers,… Read more »

Webcast Recap: Somatic Variant Analysis in VarSeq 2.3.0

         December 22, 2022
Webcast Recap: Somatic Variant Analysis in VarSeq 2.3.0

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 – Choosing When to Split Multinucleotide Variants Into Allelic Primitives.

         December 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 to forego one or more aspects of variant normalization. This… Read more »

Customer Publications – November 2022

         November 30, 2022

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 »