Summer 2021 Software Specials

         May 25, 2021
Special Offer

Summer is quickly approaching, which heralds the return of our summer software specials! Golden Helix will be offering a limited number of the following deals through June 30th, 2021. Here is a snapshot of what is being offered: VarSeq w/ CADD & OMIM (3-users) – $8,995 | (3 available) Our filtering and annotating product, VarSeq, paired with premium annotations. VSClinical,… Read more »

Easily Edit Algorithms in VarSeq Projects with a Quick Right-Click

         May 20, 2021

Thanks for checking out this blog on how to to get more out of your VarSeq projects! The best way to show off one of my favorite new features that have been incorporated into the latest VarSeq 2.2.3 release is with a scenario: You work in a lab that processes and analyzes multiple whole exome samples for copy number variations,… Read more »

VS-CNV Updates in VarSeq v2.2.3

         May 18, 2021

Golden Helix has just released VarSeq v2.2.3. In this update, there are notable changes that can improve CNV calling capabilities covered in this webcast. The topics discussed included: Accounting for GC content Improvements to CNV quality flags Using target filtering Updates to the CNV sensitivity and precision settings This blog post will elaborate on these capabilities and demonstrate how they… Read more »

Case Study – Hannover Medical School

         May 11, 2021
hannover

Dr. Auber is the team leader for the molecular genetic diagnosis of hereditary diseases at the Institute for Human Genetics at Hannover Medical School (MHH). MHH is one of the largest hospitals in northern Germany, with one of the largest outpatient clinics for individuals and families dealing with hereditary cancer and predisposition syndromes. Dr. Auber was in high school when… Read more »

Webcast Recap: High Precision Exome CNV Detection with VS-CNV

         May 7, 2021

Thank you to those who attended the recent webcast, “High Precision Exome CNV Detection with VS-CNV”. For those who could not attend but wish to watch, here is a link to the recording. This webcast delved into the complex world of CNV calling for whole-exome samples, which presents unique challenges that require specific considerations and strategies. Over the past several months,… Read more »

Golden Helix Customer Publications – April 2021

         April 29, 2021

Researchers and clinicians alike benefit from the powerful capabilities of Golden Helix’s software. Our tools are continuously validated, and we like to showcase a few articles each month that demonstrate the multitude of use cases and advancements in science. For our April installment, I would like to highlight the clinical space, with users spanning the globe, all with a common… Read more »

VarSeq 2.2.3 Released!

         April 27, 2021

I want to take this opportunity to highlight and briefly discuss some of the key features and updates that have been incorporated into VarSeq 2.2.3. Some of you may have attended the webcast that covered the prominent new features added to VarSeq, which are the updates to improve whole-exome analysis workflows, namely improved CNV calling in whole-exome datasets. However, there… Read more »

VarSeq NGS Workflow Design: Clinical vs. Research

         April 22, 2021
NGS Clinical Research

In many cases, VarSeq users design their next-gen sequencing workflows for a clinical application. One of the major values of using VarSeq is the standardization of sample analysis via project templates for filtering down to rare variants and isolate any clinically relevant variant. However, VarSeq also doubles as a robust research application as well. There are specific algorithms that can… Read more »

Using Gene Preferences in VarSeq and VSClinical

         April 20, 2021

With the latest release of VarSeq, we have made significant updates to our handling of the interaction of variants and genes. This includes the support for non-coding transcripts, improved splice site predictions, and updates to gene and transcript annotations. We received several questions regarding how decisions are made in the software regarding genes and transcripts with these gene-related changes. This… Read more »

VarSeq Update: Support for the Interpretation of Non-coding and Splice Site Variants

         April 15, 2021
Splice site

While VarSeq has always had excellent support for variant interpretation and analysis, we continue to find new edge cases in the clinical literature that improve our interpretation capabilities. In this blog, we will be covering some of the new improvements in VarSeq to support the interpretation of non-coding and splice site variants. Transcript Annotation Improvements Let’s start by covering some… Read more »

Featured in The Journal of Precision Medicine: Implementing the ACMG Guidelines for CNV in a Commercial Software Solution

         April 8, 2021

We are excited to share our latest publication with The Journal of Precision Medicine, “Implementing the ACMG Guidelines for CNV in a Commercial Software Solution”. “In 2020, ACMG in collaboration with the ClinGen working group developed a new set of guidelines for the clinical interpretation of CNVs. While theseguidelines provide a robust set of rules for interpreting intragenic deletions and… Read more »

Webcast Recap: Exome Analysis with VS-CNV and VSClinical: Updated Strategies and Expanded Capabilities

         April 8, 2021
Exome CNV webcast

Thank you to those who attended the recent webcast, “Exome Analysis with VS-CNV & VSClinical: Updated Strategies & Expanded Capabilities”. For those who could not attend but wish to watch, here is a link to the recording. In this webcast, we covered the capabilities and updates that have been incorporated into VarSeq that enhance whole exome sequencing workflows. The new… Read more »

GenomeAsia 100K Variant Frequency Annotation

         March 30, 2021
genomeAsia

The GenomeAsia 100K Variant Frequency database is a pilot annotation source now available to our users. This valuable database offers a deep characterization of specific populations in Asia that can be used to drive genetic studies. GenomeAsia is comprised of whole-genome sequencing data of over 1,000 individuals from 219 populations across Asia. Using this as an annotation, users can analyze… Read more »

Customer Publications – March 2021

         March 25, 2021

Breakthroughs and discoveries in personalized medicine occur every day and here at Golden Helix, we are proud to play a role in so many cutting-edge investigations. It is always my pleasure to provide a brief description of what is only a small sample of our customer success stories over the course of four weeks and this month is no exception…. Read more »

New Assessment Catalogs Improve Saving and Tracking Variant Interpretations

         March 23, 2021

In this blog, we will be covering new assessment catalogs and how they work to improve saving and tracking variant interpretations. VarSeq is a variant analysis tool that effectively analyzes single nucleotide (SNVs) and copy number variants (CNVs) in both cancer and germline workflows.  Because VarSeq enables such diverse variant analysis, there are many research labs and institutions that evaluate… Read more »

Orphanet Annotations in VarSeq

         March 18, 2021

Orphanet is a public database available in VarSeq that aims to improve the current understanding and treatment options for patients affected by rare diseases. This resource was established in France in 1997 and has gradually grown to cover a consortium of over 40 countries in Europe. The primary goal of this database is to provide a universal nomenclature to classify… Read more »

2021 Abstract Competition Winners

         March 16, 2021
2020 Abstract Competition Winners

We would like to thank everyone who entered our 2021 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Viney Gupta – All India Institute of Medical Sciences – AIIMS Digenic Inheritance in Juvenile Open-AngleGlaucoma Sign up for… Read more »

Webcast Recap: VSWarehouse: Tracking Changing Variant Evidence and Classifications

         March 11, 2021
VSWarehouse

Thank you to those who attended the recent webcast, “VSWarehouse: Tracking Changing Variant Evidence and Classifications”. For those who could not attend but wish to watch, here is a link to the recording. The webcast covered some general highlights of VSWarehouse value but also presented some specific capabilities covering the ClinVar classification tracker. Golden Helix provides complete solutions to handle… Read more »

Customizing New VSClinical Report Templates

         March 9, 2021
VSClinical Word reporting

Clinical testing labs produce reports as the end product of the NGS variant detection and interpretation workflow. Necessarily, the content, detail, and presentation of the report needs to be specialized to each clinical lab, and potentially each offered test. Our last blog post introduced the new Word-based report templates in VSClinical. In this blog post, we will introduce and explore… Read more »

Implementation of ClinGen Dosage Sensitivity in VSClinical

         March 4, 2021
Clin Gen CNV

The collaboration between the Clinical Genome Resource (ClinGen) consortium and the American College of Medical Genetics (ACMG) recently developed published guidelines for the interpretation of CNVs called on next-generation sequencing data. These new guidelines are the first to provide a robust set of rules for the interpretation of small intragenic deletions and duplications and are now automated in VSClinical.  … Read more »