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VSClinical Customer Publications for August 2021

Aug 31, 2021

Welcome to the August 2021 edition of our customer publications blog post! Each month we spotlight a few recently published articles by our incredible Golden Helix customers. With users spanning both research and clinical spaces, the topics vary widely across many fields. This month, we will be highlighting VSClinical users…

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ESHG 2021 Corporate Satellite Talks

Aug 26, 2021

Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun,…

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Customer Publications in July 2021

Jul 29, 2021

In the July 2021 Customer Publication blog, I will highlight four studies that provided further insights into conditions that are typically identified in early childhood. As you will see as you read the summaries of each publication, both Golden Helix software platforms (VarSeq and SNP & Variation Suite or SVS…

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Golden Helix Named to 10 Innovative Biotechnology Solution Companies for 2021

Jul 19, 2021

Golden Helix is proud to be recognized as a top biotechnology solution provider, named one of MirrorReview’s 10 Innovative Biotechnology Solution Companies for 2021. This acknowledgment reflects over two decades of dedication to advancing bioinformatics and empowering the global genomics community. Our success would not be possible without the support…

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Merged gnomAD Genomes and Exomes Annotation Source

Jul 15, 2021

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects (1). We have covered this annotation in-depth in other blog posts, but this resource…

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An end to diagnostic odysseys?

Jul 13, 2021

Could leveraging CNV analysis for whole exome or genome sequencing help provide answers for the undiagnosed? Roughly 4% of the world’s population shares one common desire – a diagnosis (1). Though it may seem counterintuitive, a diagnosis, no matter how grim, can provide relief, validation, the chance to make plans,…

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Customer Publications Throughout June 2021

Jun 29, 2021

Golden Helix’s solutions are leveraged in a wide variety of scientific fields. As always, we are thrilled to showcase some of the newly published articles written by our customers in June 2021. Here are a few that utilized VarSeq’s powerful scalability analyzing whole exome sequencing data. WES can identify variations…

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Golden Helix’s Next-Gen Sequencing Data Analysis Solutions Explained

Jun 22, 2021

Next-gen sequencing (NGS) comprises many sophisticated steps that are often compressed into three major sections: library prep, sequencing, and data analysis. Obviously, the goal is to simplify each of these steps, but more often than not, there is a need for multiple tools to complete each one. Regarding the data…

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VSPipeline Best Practices

Jun 17, 2021

VSPipeline is becoming a very popular tool among VarSeq users as it is essential for creating repeatable clinical workflows that can be executed in automated fashion. Since VSPipeline is a command-line tool, I think it would be helpful to discuss some of the best practices along with helpful tips for getting the most out of VSPipeline.   Some of you may be less familiar with VSPipeline, so I want to cover how to set up the first…

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Highlights from our PhoRank 2.0 Webcast

Jun 10, 2021

Thank you to those who attended our recent webcast, “PhoRank 2.0: Improved Phenotype-Based Gene Ranking in VarSeq”. For those who could not attend, you can find a link to the recording here. This webcast covered upcoming improvements to the PhoRank phenotype-based gene ranking algorithm based on literature published in the…

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A Simple Guide to Curating Genome Assemblies

Jun 8, 2021

A common feature request from Golden Helix customers is to curate and make available genome assemblies for different plant and animal species. These requests commonly come from SVS users as many research projects are being carried out, and having the genome assembly available for analysis is essential. That being said,…

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Variant Filtration and Interpretation

Jun 3, 2021

I learned about Batten disease from a childhood friend’s Facebook post. Over the course of a few months, her 8-year-old, Eva, the oldest of 4 daughters – Emily, Lucy, and Carly – was rapidly going blind. Baffled, doctors ran a genetic panel that returned a devastating result – the diagnosis…

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Importing CNVs using VSPipeline

Jun 2, 2021

VSPipeline is a command-line interface that will provide high throughput environments the ability to tap the full power of VarSeq’s algorithms and flexible project template system from any command-line context, including the existing bioinformatics pipeline. This feature is a great resource for analyzing large sample volumes as it automates importing…

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Customer Publications – May 2021

May 25, 2021

In this month’s customer publications blog, both of our flagship software platforms are shown hard at work to cover many scientific investigational topics. You will get a glimpse of how VSClinical can be used to dive deeper into a specific gene associated with breast cancer and how SVS is enabling…

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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…

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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…

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Case Study – Hannover Medical School

May 11, 2021

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…

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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…

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Golden Helix Customer Publications – April 2021

Apr 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 2021 customer publication installment, I would like to…

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VarSeq 2.2.3 Released!

Apr 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…

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