Embracing the Future: Transitioning from Marketing Coordinator to Senior Marketing Manager at Golden Helix

         April 10, 2023

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 »

Unraveling the Genetics Behind Orofacial Clefts and Achromatopsia: Two Inspiring Studies Using Golden Helix Products

         March 30, 2023
Discover how Golden Helix products contribute to groundbreaking research on orofacial clefts and achromatopsia, showcasing their versatility in advancing our understanding of these rare genetic conditions.

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 »

ACMG 2023 Insights: Exploring Whole Exome Sequencing, Hereditary Cancer, and Prenatal Genetics

         March 28, 2023

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 »

Maximizing Structural Variant Detection with Soft Clip Visualization

         March 27, 2023

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 »

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 »

Decoding Complex Fusion Representations: A Deep Dive into VCF Breakend Notation and its Impact on Gene Analysis

         March 14, 2023
Decoding Complex Fusion Representations A Deep Dive into VCF Breakend Notation and its Impact on Gene Analysis Icon

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 »

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 »

Automated FASTQ to Reports with VarSeq Suite: A fast, flexible solution

         February 16, 2023
Automated FASTQ to Reports with VarSeq Suite

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 »

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 »

Unlocking Clinical Evidence: A Deep Dive into the Supporting Data Sources of VSClinical AMP Workflow

         February 7, 2023
Unlocking Clinical Evidence: A Deep Dive into the Supporting Data Sources of VSClinical AMP Workflow Icon

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 »

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 »

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

         January 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. At Golden Helix, we have always been committed to innovation… 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 »

Exploring the CRAM File Format in VarSeq 2.3.0

         January 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 Map) by only storing the differences between each read and… Read more »

Revolutionizing Healthcare and Embracing the Montana Lifestyle at Golden Helix

         January 12, 2023
ghi personal experience

Experience the journey of revolutionizing precision medicine at Golden Helix – my personal account of working with an innovative and impactful company. Ever since becoming a member of Golden Helix’s team, I have relished the opportunity to contribute to the company’s mission of revolutionizing genomic medicine. Since 1998, this company has been at the forefront of advancing precision medicine and… Read more »