Discover the innovative clinical evidence search of the VSClinical AMP workflow, where patient biomarkers and tumor types are matched to the most relevant data from top sources like CIViC, DrugBank, and Clinical Trials. One of the core features of the VSClinical AMP interpretation workflow is the ability to search third-party data sources to find clinical evidence that matches the patient’s… Read more »
Revolutionize Your Somatic Variant Analysis with Our Cutting-Edge Template for Annotation and Filtering in VarSeq Golden Helix is excited to share our new Comprehensive Cancer Template for somatic variant annotation and filtering, along with the latest version of our software VarSeq 2.3.0! Our latest VarSeq update was specifically focused on getting up to speed with multiple aspects of somatic variant… Read more »
Happy New Year! I hope that you all were able to enjoy quality time with your loved ones over the holidays. Now that 2022 has come to a close, we would like to take the time to say thank you while looking back on a big year full of new experiences and accomplishments. During the pandemic, we’ve been using the… Read more »
Researchers and clinicians alike utilize our software to progress diagnostic capabilities across the globe. Our tools are continuously validated, and below is a showcase of a few articles this month that demonstrate the range of uses. This is our final customer publications blog of 2022; I would like to say thank you to all of our current partners and customers,… Read more »
Our FAS team would like to thank everyone who attended our December 2022 webcast, A User’s Perspective: Somatic Variant Analysis in VarSeq 2.3.0. This webcast allowed three members of our FAS team to give their unique insights concerning the improvements to our new VarSeq 2.3.0 release, which will be recapped here. Starting with template creation, our Technical Field Application Scientist,… Read more »
Thank you to everyone who joined us for our webcast on the upcoming VarSeq features supporting the full spectrum of genomic variation! Traditionally, NGS cancer testing started with small gene panels that looked at a small set of the most common genes to identify small mutations, such as BRAF V600E. However, there are many classes of mutation that cannot be… Read more »
Here at Golden Helix, we would like to take a moment and highlight some of our amazing and talented women in STEM! Below are short excerpts from some of our own Golden Helix employees and their experiences both in STEM and here at Golden Helix. Rana Smalling Field Application Scientist B.A. in Biological Sciences, Ph.D. in Biochemistry My experience in STEM started in… Read more »
The ACMG classification guidelines for variant pathogenicity are as ubiquitous as they are complicated to implement. They play a consistent and evolving role in the standard workflows of many experts in the next-generation sequencing field, both in the clinical and research space. Furthermore, they can be effectively applied in both somatic and germline workflows. Hence, consistent and auditable methods for… Read more »
The Golden Helix team is headed off to Phoenix, AZ for the Association for Molecular Pathology Annual Meeting & Expo (AMP) 2022. We are enthusiastically awaiting a week of genetics discussions with new and familiar faces. If you are attending, please stop by our booth and say hello! We will be exhibiting at booth 1432. Golden Helix President & CEO,… Read more »
The month of VarSeq must be October. This month we saw incredible research and clinical application being utilized with the VarSeq suite. Whole exome sequencing and variant filtering and annotation, CNV calling for oncology research, and pathogenicity classification using the ACMG guidelines. VarSeq was able to be a front-runner this month, showing the full range of capabilities. Germline RB1 Mutation… Read more »
Our team is getting ready to head to Los Angeles, CA for the American Society of Human Genetics Annual Meeting (ASHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello! You will find the Golden Helix team in booth… Read more »
There are many reasons a user may wish to focus in on specific variants as part of variant annotation and filtration workflow. You may be looking for the occurrence of specific SNPs in a cohort or perhaps looking for variants known to be associated with specific forms of cancer. For both of these use cases, VarSeq provides a Match String… Read more »
Every month we compile customer publications that reference us, and every time I am excited to see the amazing work being done around the world. From pediatric heart conditions to rare diseases, or a Thai clinical study on dilated cardiomyopathy, it is always a pleasure to see the Golden Helix Software suite helping research and clinical genetics. Below are a… Read more »
Large genetic cohorts require substantial effort to analyze. Genetic researchers are increasingly turning to whole exome and whole genome sequencing analyses for their clinical diagnostics and research. However, with that approach comes the challenge of making sense of these massive datasets. This is especially challenging when looking for tools that can streamline variant analysis for large genetic cohorts and include… Read more »
There are a number of conferences coming up on our schedule in the next few weeks. It’s a great opportunity check out the latest developments at Golden Helix and see exciting technologies in action. These conferences are a wonderful opportunity to discuss new discoveries in genomics. We will be there with our clinical NGS analysis software, the VarSeq suite, to… Read more »
We would like to thank everyone who entered our 2022 Innovation Awards Competition. It is always a pleasure to read and learn about the various ways Golden Helix software is applied around the world as well as the amazing research that is being done. With that said, it is our pleasure to announce this year’s winners! First Place: Ammar Husami… Read more »
Thank you to those who attended our webcast on the user perspective of our automated AMP guidelines! Furthermore, let me express our appreciation for those particularly engaged users who posed some very thoughtful questions. While we weren’t able to answer all of them live, I hope to shed some light on some pertinent details of somatic analysis here. Let’s start… Read more »
Manually converting FASTQs to VCFs, importing these into VarSeq, and building projects from scratch is adequate when you have only a handful of cases per week. But as you start ramping up production, the key to your lab’s success quickly becomes how quickly and efficiently you can get to the reporting of your analysis. This blog will explain how you… Read more »
Our team is excited to be in Vienna, Austria for the European Society of Human Genetics Annual Meeting (ESHG) 2022. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello! You will find the Golden Helix team in booth X5-476. Our… Read more »
As we look back on May, I wanted to highlight a range of applications that our VarSeq suite is capable of and show the success of our partners. In these publications, our VarSeq suite is utilized for the analysis of whole-exome, clinical variant classification and association, and assisting in an NGS panel for clinical oncology use. VarSeq’s range and capability… Read more »