Golden Helix Blog

Sentieon Updates: Now Supporting Long-Read Alignment and Calling

May 9, 2022

Here at Golden Helix, we’ve sought to develop top-quality bioinformatic software to handle not only high-throughput clinical next-gen sequencing pipelines but also cater to research groups exploring their cohorts. Our tools fit in this NGS pipeline by importing the VCF and BAM files for downstream filtration, annotation, and classification/interpretation as…

Read more →

Mining Curated Databases for Literature in VSClinical

Apr 29, 2022

Curated databases are a real time saver when compiling published evidence to support your variant evaluations and classifications. Leveraging the curated databases at your fingertips in our VSClinical variant interpretation hub is even more efficient. Not only does VSClinical provides users with automated variant classification for germline variants according to…

Read more →

Customer Success

Apr 27, 2022

For this month’s Customer Success blog, I decided to revisit some of my favorite studies that had previously been featured in years past. At the time we first highlighted the below publications, some of them were in pre-print and have since been accepted and published. What they all have in…

Read more →

Mining VarSeq Curated Databases for Literature – Raw Data Search in Variant Table or GenomeBrowse

Apr 21, 2022

An under-utilized use of VarSeq is the ability of mining raw variant data in GenomeBrowse for relevant literature. By bringing in various public and private annotation sources, GenomeBrowse allows the user to interface with raw variant data in a compressed and manageable view. This blog will show you how to…

Read more →

Annotation Updates: RefSeq and Ensembl gene tracks for GRCh38

Apr 20, 2022

I’d like to take a moment to announce the release of updated gene tracks for the GRCh38 genome assembly! Gene annotation tracks are essential to all VarSeq projects and workflows. Whether your favorite gene track is Ensembl or RefSeq, both sources have been updated and released and can be used…

Read more →

VarSeq Template Design Recommendations: Single Sample Variant Filtering

Apr 6, 2022

When doing next-generation sequencing (NGS) analysis in VarSeq, the fundamental goal is to develop efficient ways to filter through your NGS data. If you are just getting started with Varseq, a pre-designed project template can really come in handy for variant filtering! This blog series will cover a number of…

Read more →

Customer Publications March 2022

Mar 31, 2022

We at Golden Helix thoroughly enjoy seeing our software being utilized to solve problems and assist in the diagnosis of hereditary diseases. It is gratifying to be notified of customer publications in which they are doing precisely this. While there have been numerous publications this month showcasing Golden Helix software…

Read more →

New Annotations Product Page

Mar 30, 2022

Golden Helix is always trying to add new helpful resources to aid in using Golden Helix products for NGS analysis. In today’s blog, I am very excited to introduce a new resource for Golden Helix users! A new resource that is now available is our Golden Helix Annotations product page…

Read more →

See you all at ACMG 2022!

Mar 16, 2022

Everyone at Golden Helix is excited to be traveling once again to an eventful week in Nashville, Tennessee, for ACMG 2022! If you are attending the conference, we hope you will stop by our booth and say hello to the team: Andreas Scherer, Ph.D., Darby Kammeraad, Jennifer Dankoff, and myself,…

Read more →

Review of VarSeq Export Options

Mar 10, 2022

Although best known for its auto-generation of custom reports, VarSeq comes with a slew of options for exporting your data. In this blog, we will review some of the lesser-known methods for exporting your data into usable formats. These four export options can all be found under the Export tab…

Read more →

Reporting Secondary Germline Variants in VSClinical AMP

Mar 2, 2022

Tumor profiling via next generation sequencing (NGS) often reveals secondary germline variants that may constitute important incidental findings. In May 2021, the American College of Medical Genetics and Genomics (ACMG) released an updated policy statement for reporting incidental findings in exome and genome sequencing data along with a corresponding list…

Read more →

Customer Publications February 2022

Feb 28, 2022

VarSeq software again takes center stage in our recent publications for February. It is our great honor to be a part of the groundbreaking discoveries highlighted below as well as the many others too numerous to include in this blog post! We are happy to contribute to scientific findings from…

Read more →

Integrating Custom Gene Panels for Variant Annotations Q&A Follow Up

Feb 16, 2022

Thanks to all those who attended the recent webcast by Dr. Rana Smalling, “Integrating Custom Gene Panels for Variant Annotations”. If you were unable to attend or would like to recap, here is a link to watch the broadcast. We covered a lot of content regarding virtual gene panels, and…

Read more →

Customer VarSeq Publications in January 2022

Jan 31, 2022

January 2022 has started off with a significant number of customers publishing their research. We saw several customers utilizing various softwares within our suite, but the most prominent being VarSeq. VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and perform variant…

Read more →

Large Scale PCA Analysis in SVS – Webcast Q&A Follow Up

Jan 26, 2022

Thank you to those who attended our recent webcast by Gabe Rudy, Large Scale PCA Analysis in SVS. For those who could not attend, you can find a link to the recording here. While this webcast discussed methods for principal components analysis (PCA) in SVS, including the new capability for…

Read more →

How to Create Your Own CNV Frequency Catalog

Jan 20, 2022

Global population frequency catalogs like 1kG Phase 3, gnomAD, DGV, and others are excellent resources for identifying rare variants in your copy number variant (CNV) analysis. However, they are not exhaustive, and the reality is a lot of variants that are missing from global population frequency catalogs are still common…

Read more →

Highlights from Advanced Report Customization in VSClinical Webcast: Somatic Reports

Jan 6, 2022

In our previous blog, we covered the highlights of our Advanced Report Customization in VSClinical webcast in the context of germline clinical reports. Now, we bring you the next of the series: somatic clinical reports. In the recent webcast, Advanced Report Customization, we covered a range of somatic-focused clinical reports,…

Read more →

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…

Read more →

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…

Read more →

SVS 8.9.1 Release

Dec 28, 2021

We would like to announce that a new version of SVS has been released! The headlining feature of the SVS 8.9.1 release was new functionality for Large Data Principle Component Analysis. A detailed description of this new feature can be explored in this recent blog post: Finding a Few Principal…

Read more →