The SVS 8.8.3 release was created to incorporate some of the CNV, genome assembly control, and splice site capabilities that are present in VarSeq, as well as clean up and streamline the GWAS workflows (like when using Mixed Linear Model algorithms) for a better user experience. New Product Add-Ons for SVS New Features Designed for calling large cytogenetic events, this… Read more »
This blog will conclude our VSClinical Best Practice Workflow series and focuses on one of our new reports: VSClinical ACMG Gene Panel Template. This template is valuable because it automatically enters your variant interpretation from the ACMG Guidelines into the report and eliminates the need for manual submission. I would like to explain how to properly implement this report into… Read more »
We just got back from three busy days at the Molecular Pathology (AMP) conference in friendly San Antonio, Texas. Keeping up the Golden Helix conference momentum for the year, we had 3-4 in-booth demonstrations a day covering our CNV calling, variant interpretation, and data warehousing products for NGS-based genetic tests. And in short, NGS based tests for cancer and germline… Read more »
VarSeq Stable 2.1.0 is Ready for Clinical Validation, See it in Action Next Week This week we are happy to see the general availability of VarSeq 2.1, the culmination of the last five months of work since we launched VSClinical. We have been blown away by the adoption of VSClinical, outpacing any previous product launch in terms of the pace… Read more »
We’ve packed our bags and we’re off to The Lone Star State to take part in the Association for Molecular Pathology Annual Meeting and Expo (AMP 2018)! As first-time attendees, we’re looking forward to integrating ourselves in the AMP community and showcasing our clinical stack, including VSClinical released earlier this year. Come on over and introduce yourself, you’ll find us… Read more »
In the first two parts of this blog, we presented examples of how to leverage Warehouse-stored VSClinical and CNV assessment catalogs in the VarSeq project. Now we are going to explore the Warehouse interface a bit more and show how to query on stored variant data. To access Warehouse from VarSeq, click the V Connect icon located in the top… Read more »
Part 1 of this blog series was focused on new capabilities in Warehouse to store your CNV results. We explored some approaches of how to utilize assessment catalogs of cohort and known pathogenic events. What makes Warehouse so useful in this application is that the catalog is accessed from one central location and ensures every user is leveraging the same… Read more »
This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing [email protected]. To what level does the Warehouse scale? We have tested multiple instances of Warehouse in-house and on the cloud and it scales incredibly well to tens of thousands of samples and 100s… Read more »
As we are beginning to welcome the crisp fall weather here in Montana, we cannot wait to make an escape to the warm, sunny weather of San Diego, CA for the American Society of Human Genetics Annual Meeting (ASHG 2018). We are looking forward to spending the week discussing with new and familiar faces within the genetics industry. If you… Read more »
It is our distinct pleasure to inform the GHI community that we have been awarded a Phase II SBIR Grant from the National Institutes of Health. As we are also preparing to celebrate our 20th Anniversary, these two events invoke a lot of excitement within our company and what lies ahead, for not GHI only, but the genetics field entirely…. Read more »
Sentieon; your swift secondary analysis solution. Golden Helix’s software solutions present a reputable and top-quality analysis of your NGS data. Looking at this process from a 30,000 ft view, the annotation and filtering of variants in your vcf files and discovery of CNVs based coverage data in the bam file make up the tertiary level portion of the analysis. However,… 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 »
We’re looking forward to seeing everyone at ESHG 2018 in Milano, Italy. Both Gabe Rudy and I will be representing the Golden Helix Team and hope that you will stop by to say hello! We will be in booth #312 which I’ve highlighted in the photo below: As always, we have put together a series of quick, in-booth demos that… Read more »
We are incredibly honored to be recognized as one of the Top 10 Analytics Solution Providers of 2018 by Pharma Tech Outlook. “Through innovative products, Golden Helix has been simplifying the clinical workflows and genomic testing for numerous labs. For instance, Prevention Genetics, a clinical testing laboratory offering genetic and DNA banking services with the largest menu of gene sequencing… Read more »
Ready to take your analysis to the next level? Our Small-Lab VarSeq PowerPack enables users to move their analysis from FASTQ to clinical reporting through one streamlined pipeline. Here’s what’s included: VarSeq VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes. VS-CNV… Read more »
Relating human phenotypes to genotypes is the name of the game with OMIM, and as their website says, “is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.” The Online Mendelian Inheritance in Man (or OMIM) was originally created by Dr. Victor A. McKusick in… Read more »
Our abstract competition is one of my favorite events because of the learning opportunity it provides our team. Each applicant’s submission tells us a unique story about how our software is helping users conduct their research. This year’s competition didn’t disappoint bringing a new round of fascinating studies to our attention. However, with all these great abstracts came the difficult… Read more »
Awarded one of the top biotech companies Insight Success recently published its annual Pharma and Life Special Edition announcing the 10 most innovative solution providers of 2018. We are incredibly honored to have received this award and being recognized amongst the top biotech companies! You can access the publication featuring my interview with the editor here: http://www.insightssuccess.com/golden-helix-helping-researchers-clinicians-understand-role-cnvs-human-health-disease/. I have outlined some… 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 »
First of all, I wish you a prosperous 2018 along with happiness and health for you and your loved ones. This next year comes with lots of anticipation. We at Golden Helix are looking forward to another year of growth and innovation. Over the last few years, we were able to build a large following of clients in the clinical space…. Read more »
