Search results for “Cancer”

Using Evaluation Scripts to Automatically Incorporate Secondary Evidence into Your AMP Workflow

Jun 15, 2023

The AMP guidelines workflow in VSClinical provides a user-friendly tool for the interpretation of somatic biomarkers across the entire spectrum of genomic variation. One of the most useful features of this workflow is its ability to streamline the evaluation of clinical evidence for a somatic biomarker using the AMP Tier…

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We are Headed to AMP Europe 2023!

Jun 12, 2023

Discover the Latest Developments in Variant Classification and Interpretation Tools at Golden Helix’s Booth at AMP Europe 2023 in Milan, Italy We are thrilled to announce that Golden Helix will be participating in the AMP Europe 2023 conference in Milan! We are eagerly looking forward to connecting with leading healthcare…

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We are Headed to ESHG 2023!

Jun 6, 2023

Explore the Newest Developments in Variant Classification and Interpretation Tools at Golden Helix’s Booth at ESHG 2023 We are excited to announce that Golden Helix will be attending the ESHG 2023 conference in Glasgow! We can’t wait to connect with leading healthcare professionals and researchers in the field of genetics at…

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When Negative Findings are a Good Thing to Report: Leveraging VarSeq’s VSClinical AMP

May 25, 2023

Explore the importance of negative findings in genomic medicine through the lens of VarSeq’s VSClinical AMP. When analyzing a somatic sample in VarSeq, users have the option to report on several types of biomarkers with VSClinical AMP. In addition to your usual mutational biomarkers such as small variants, your copy…

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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…

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Transitioning to Broad-Scale Genomics: From Gene Panels to Whole Genome Sequencing

May 16, 2023

Explore the evolving landscape of genomic analysis, transitioning from targeted gene panels to whole genome sequencing. A recent trend with our customers has been to expand their workflows from small panel sequencing analyses to larger whole exome and genome sequencing analyses. The decreasing cost of sequencing has made this a…

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Virtual Presentation at Bio-IT World Conference & Expo

May 9, 2023

The Bio-IT World Conference & Expo is a prestigious event showcasing the latest advancements in bioinformatics, computational biology, and data management. This year, the conference will be held in person and virtually, making it accessible to an even broader audience of researchers and bioinformatics enthusiasts. Andreas Scherer, President and CEO…

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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…

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Managing the Scope of Somatic Variants Reported in VSClinical

Apr 13, 2023

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…

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Prenatal Genetic Screening with VarSeq Webinar Highlights

Mar 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!…

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

Feb 23, 2023

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…

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

Feb 14, 2023

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 for your samples. But…

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

Feb 7, 2023

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…

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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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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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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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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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