Like many of you, I was supposed to attend the 2020 ACMG Meeting in San Antonio this March with a few colleagues. In addition to attending the conference, my first blog post for Golden Helix was going to be about our time at the conference. Thanks to the world-wide COVID-19 pandemic, none of us got to attend the conference. (We… Read more »
Dear All, Going back in time to the beginning of this year, it would have been difficult to imagine what our world would look like as of June 2020. Things changed quickly. While we are still in the midst of the COVID-19 pandemic, the senseless killing of George Floyd triggered social unrest here in the USA that points to deeper… Read more »
SVS offers several options to conduct genome wide association tests and mixed linear models. At times, it can be challenging to decide which test, model, or adjustments to use when setting up your analysis. I want to briefly explore the options available in SVS for association tests, and mixed linear models to hopefully facilitate in understanding and choosing which options… Read more »
Thank you to everyone who joined me for yesterday’s webcast, I hope you all enjoyed it. If you missed the live event and are interested in knowing what we talked about, good news, you can watch the recorded version right here! There were so many great questions asked during our Live Q&A that I was unable to answer all of… Read more »
Introducing Drugs & Trials for Cancer Diagnostics VSClinical offers enormous simplicity and consistency in evaluating biomarkers and providing treatment options. Last month, we announced our newest feature to now include the automated collection of relevant clinical trials. The new capability was unveiled in our “Introducing Drugs & Trials for Cancer Diagnostics” webcast with Nathan Fortier, Ph.D., Director of Research, showing… Read more »
Although VarSeq is intentionally designed to be a clinical NGS pipeline tool able to run a handful or even single samples through, we have many users who run large cohort style studies with the tool as well. One common use is to compare case/control data to isolate variants shared among affected individuals and exclude those in unaffected. One incredibly powerful… Read more »
Happy New Year! Certainly, I hope you had a relaxing time over the holidays with family and friends as well as a great start into the new year. 2019 was a real landmark year for Golden Helix. Please let me mention a few highlights: We launched VSClinical AMP in June 2019: This product is supporting the clinical variant interpretation based… Read more »
As clinical genetic tests have been adopted as a critical enabler of precision medicine, the number of tests offered by clinical labs and the volume of tested patients has grown by orders of magnitude in the past five years. The Gene Testing Registry, managed by the NIH, documented a rise from 13,000 to 60,000 tests offered in the US market… Read more »
The first two blogs in this series covered Sentieon’s somatic variant calling from Tumor with Normal (Part I) and Tumor without Normal (Part II). In addition to providing multiple somatic variant calling processes, users also have access to high-sensitivity scripts and full support for the GRCh38 reference assembly. Without going into excessive detail, this final blog of the series will… Read more »
To recap what we have covered in this blog series thus far, Sentieon allows users to call somatic variants against a matched normal sample and a tumor-only analysis. Part I of this series covered the variant calling workflow for tumors with matching normal samples. However, a common situation would be to call variants for a tumor sample without the normal…. Read more »
As I mentioned in the first part of this series, Sentieon allows users to call somatic variants against a matched normal sample and a tumor-only analysis. Utilization of a Tumor-Normal Workflow In addition to the fundamental process of alignment and variant calling, there are a few more steps that will improve the quality of your secondary analysis. Figure 1 (below)… Read more »
Happy New Year. I trust you had a relaxing time over the holidays with family and friends as well as a great start into 2019. Golden Helix certainly had a landmark year. There were many highlights that actually shaped the direction for us in the years to come. Please let me mention a few: We launched VSClinical in May 2018:… Read more »
High product quality is a foundational characteristic of a useful and successful product. Quality testing, therefore, is a necessary, albeit an open-ended task. It can at times seem a limitless undertaking in the present using experience from the past to improve the future. Nonetheless, it is approached as a development stage at Golden Helix that is just as essential as… 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 »
Celebrating our 20th Anniversary on September 15th, we took some time to reflect on the last two decades in this industry. Two decades of learning, adaption, and growth on the business side as well as the personal side. Employees began their careers with us, made new friends and started their own families. These past 20 years are full of stories… 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 »
In the last installment of this series, I covered the basics of variant interpretation and how it fits into the genomic testing process. Now we can cover in more detail how VSClinical works, what algorithms and annotation sources power the recommendations and how the ACMG criteria are organized into useful categories. VSClinical is built to make the process of evaluating… Read more »
Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »
First-place Abstract Competition Winner, Michael Iacocca, shared his research with the Golden Helix Community during our February webcast ‘Using NGS to detect CNVs in familial hypercholesterolemia‘. In this webcast, he gave a great explanation on how our CNV caller aided his team in their research. If you were unable to join us for the event, you can find a recording… 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 »
