About Golden Helix

What to Expect From GnomAD v3.1.2

Jan 5, 2022

In this blog post, I am very excited to talk about The Broad Institute’s release of the latest version of gnomAD, v 3.1.2, which is now available for use as an annotation source in your SVS or VarSeq projects. For VarSeq users, I also want to point out that gnomAD…

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What to Expect in 2022

Jan 3, 2022

Happy New Year to all! I hope that you were able to enjoy quality time over the holidays with family and friends. It is time to begin discussing our plans for the new year again, but I would first like to review a few highlights from 2021 that laid the…

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Breaking Down ACMG CNV Guidelines in VSClinical

Nov 25, 2021

In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different…

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Running VSPipeline from a Docker Container

Nov 10, 2021

As a lab or group scales the number of NGS samples analyzed, it is important to automate the sample analysis pipeline from the sequencer to the point where it is ready for a variant scientist or lab personnel to follow the interpretation workflow and draft a clinical report. VSPipeline leverages…

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Customer Publications in October 2021

Oct 28, 2021

The customer-published articles this October cite the range of Golden Helix’s VarSeq annotation range and capability. The following publications feature everything from annotating an Italian nobleman mummy, assisting in identifying mutations in primary congenital and juvenile glaucoma, new mutations associated with muscular dystrophinopathy, and germline variants associated with head and…

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Customer Publications in September 2021

Sep 30, 2021

In September 2021, published articles citing Golden Helix software serve as a testament to our product’s broad applications and utility in NGS data analysis. We are always proud of our customers and the contributions they make to advancing scientific discovery and are grateful to be included in their research. This…

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Customized Reports in VSClinical with New Output Types

Sep 23, 2021

Golden Helix VSClinical provides a guided workflow interface for following the ACMG and AMP guidelines to evaluate variants and CNVs for NGS tests. The output of this work is most often a lab-specific clinical report. Since it was introduced, we have provided a powerful Word-based templating system to allow labs…

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2021 T-Shirt Design Competition Winners

Sep 2, 2021

We would like to thank everyone who participated in our 2021 t-shirt design competition. It was great to see the amount of creativity our community expressed and was certainly a tough decision to make! We are pleased to announce this year’s winners: First Place – Bruce Eng For over 35…

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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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