Our team has returned from the annual meeting of the Association of Molecular Pathology (AMP 2019), and, as always, I am grateful for all the wonderful experiences we are bringing back with us. The plenary sessions and talks were bountiful, and we were very impressed with the well-organized exhibition. Hats off to everyone involved in planning this great event! Innovation… Read more »
VarSeq 2.2.0 was released today and this a stable release full of upgrades and polishes. Some of the newer features include the ability to store and include AMP Cancer assessment catalogs on VSWarehouse, quicker accessibility to common annotations plotted in GenomeBrowse, and the addition of all of our standard templates for the GRCh38 genome assembly. Many of the polishes were… Read more »
We have covered a lot of ground in this Automating & Standardizing Your Workflows blog series. First, we saw how to perform secondary analysis with Sentieon to generate the necessary VCF and BAM files for tertiary analysis in Part I. The implementation of VSPipeline allowed for rapid import and project generation for a predefined cancer gene panel project template in… Read more »
In our last part of this series, we showed how to run a pre-built workflow template via VSPipeline to automatically import and filter sample variants to streamline the search for clinically relevant variants. Now, we can deep-dive into our filtered, pathogenic variants to fully understand and capture their final classification and interpretation. Filtered Germline Variants for ACMG Guidelines The VSPipeline… Read more »
As our regular customers may know, we write our blogs to provide relevant content to any NGS-based analysis with VarSeq. Our goal here at Golden Helix is to provide top quality software and guidance on how to use the software efficiently to perform variant analysis. However, this blog series will take a more general perspective and supply some insight into… Read more »
This webcast generated a lot of great questions about the content covered in the video above. I have summarized our Q&A session below and included some questions I didn’t have time to answer during the live event. If you have any further questions, reach out to us at info@goldenhelix.com! Q: Can I upload my existing classifications into a consortium source?… Read more »
If we take a look back in time, a lot happened in September 1998. It is the month in which the first ever “Who wants to be a Millionaire?” show debuted on ITV in Britain. Larry Page and Sergey Brin incorporated Google in September, registering the Google.com domain on September 15, 1998. And on that very same day, we officially… Read more »
2017 was an incredibly prosperous year for Golden Helix; we released a handful of new features, announced new partnerships and completed our end-to-end architecture for clinical testing labs. Our webcast series has become a very popular way for our community to stay up-to-date with our new capabilities and best practices in genetic analysis using our software. We had three webcast… Read more »
This month we hosted two, incredible webcasts officially announcing the latest CNV annotation capabilities our Software Engineering Team has been hard at work on for the past couple of months. Our first webcast, Comprehensive Clinical Workflows for Copy Number Variants in VarSeq, was presented by Golden Helix’s VP of Product & Engineering, Gabe Rudy, who reviewed the expanded capabilities of… Read more »
September 27, 2017 12:00 PM, EDT While Copy Number Variants are important to detect and interpret in many clinical genetic tests, labs have been without a comprehensive solution that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants. Golden Helix has developed and validated with our clinical partners a specialized NGS-based CNV caller capable of detecting… Read more »
We absolutely love case studies because they allow us to check in on our customers work and see how they are using our software. Not only is this useful feedback for our development team, but it is also an excellent way to share user experiences with prospective clients. We wanted to share a few snippets from our most popular case studies in case… Read more »
VarSeq enables breakthrough discoveries in cancer diagnostics by supporting gene panel testing and whole exome and genome analysis. We wanted to share our Cancer Gene Panel tutorial which covers a basic gene panel workflow with an emphasis on adding, modifying and manipulating filter chains. This tutorial will start with creating a new project from an empty project template, importing data, creating… Read more »
We are back from another exciting trip to ESHG, hosted in Copenhagen, Denmark last week. We were delighted by the number of researchers and clinicians we were able to connect with. Needless to say, the weather was outstanding in Copenhagen, which made our stay even more pleasant! Even though this was a European event, it was great to be able to speak with… Read more »
We are ending the first half of the year with a webcast featuring our entire clinical software stack: Golden Helix’s End-to-End Solution for Clinical Labs. This webcast is scheduled for Wednesday, June 7th at noon EST, and it’s not one you’ll want to miss! Here are the full details: Wednesday, June 7th 12:00 pm EST In this webcast we will provide an… Read more »
Yesterday we had an excellent webcast presentation featuring Sentieon’s Dr. Donald Freed. Golden Helix recently partnered with Sentieon to integrate their secondary analysis tools into our software stack, and this presentation is an introduction to their genomic tools. Please check the webcast out here if you missed it! There were a number of questions asked in the live event, so in… Read more »
ACMG 2017 is just around the corner! We are halfway through March already and it’s just about time to head off to sunny and warm Phoenix, Arizona. While the temps have been mostly mild for the last few weeks in Montana, I bet those of you in the northeast are looking forward to your time in Phoenix! You will find… Read more »
This year we have added some very important features to our software including CNV calling in VarSeq and integrating our premium annotations into SVS. We have also made many improvements to our software’s performance so that you can handle growing datasets with relative ease. In an effort to thank our community for their support throughout the year, we are happy… Read more »
ASHG 2016 is in our rear mirror. Again, it was bigger and better than the previous year. The conference hosted over 9,000 visitors from 66 countries. This gave the event a level of vibrancy that was evenly matched by the wonderful ambiance of the city of Vancouver. Nestled in between the two conference centers was a little pier offering spectacular… Read more »
It’s hard to believe that summer has already faded into fall and that ASHG 2016 is right around the corner! 2016 has been quite a busy year for us so far at Golden Helix. We have been working hard to bring our community the very best tools available for variant interpretation and SNP analysis. This year at ASHG, you can… Read more »
Gabe Rudy’s webcast yesterday, Big Data at Golden Helix: Scaling to Meet the Demand of Clinical and Research Genomics, was a huge success with well over 300 registered. In today’s blog post, I wanted to recap the Q&A session with Gabe. If you missed the webcast, check it out! Question: What is the end goal for an application like Warehouse? Answer: The… Read more »
