Category Archives: About Golden Helix

Somatic Variant Calling with Sentieon: Tumor-Only Workflow

Sentieon

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 »

Somatic Variant Calling with Sentieon: Tumor-Normal Workflow

Sentieon

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 »

What to expect from Golden Helix in 2019!

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 »

Our Philosophy on Quality in Product Testing and Development

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 »

Golden Helix Receives NIH-SBIR Phase 2 Grant 2R44 GM125432-02

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 »

Future Direction of Golden Helix

      Andreas Scherer    September 19, 2018    No Comments on Future Direction of Golden Helix

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 »

Golden Helix’s Twentieth Year Anniversary

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 »

Clinical Variant Interpretation: Part IV

VSClinical algorithm

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 »

Clinical Variant Interpretation: Part III

VCF file format

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 »

Using NGS to detect CNVs in familial hypercholesterolemia Q&A

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 »

10 Most Innovative Pharma and Life Sciences Solutions Providers 2018

innovative

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 »

Top Webcasts of 2017

      Delaina Hawkins    January 9, 2018    No Comments on Top Webcasts of 2017

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 »

Bring the Value of VS-CNV to Genomic Research in SVS

Eigenvalue Decomposition

The Golden Helix SNP & Variation Suite (SVS) platform is a powerful and versatile set of tools and algorithms for performing genomic research. That research spans from data originating on genotype micro-arrays to next-generation sequencing. While the majority of SVS users start with genotype data on their samples, any genomic information across a cohort can be used in our various… Read more »

What to expect from Golden Helix in 2018

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 »

New VarSeq Single Exome Demo Project

single exome

As VarSeq is quickly becoming the go-to variant analysis software for tertiary analysis, we want to give our readers the opportunity to examine completed projects from start to finish. As an addition to the currently available demonstration projects, we are pleased to provide users with a Single Exome Analysis example project. To access this project simply click here to download… Read more »

Annotation Education Series: Clinical Assessment Tracks

Clinical Assessment Tracks Golden Helix provides a large catalog of annotation sources for our research and clinical clientele. Making these public data repositories available to all our users is no easy task. As Cody Sarrazin mentioned in his blog post, annotation curation is a complex data science pipeline. This process aggregates data from many disparate sources and normalizes it into… Read more »

Secondary Analysis 2.0 eBook

      Andreas Scherer    September 5, 2017    No Comments on Secondary Analysis 2.0 eBook

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and… Read more »

Secondary Analysis 2.0 – Part V

Detection of CNVs

An Example of an Integrated Clinical Workflow for CNVs and SNVs In this blog series, I discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNVs) and copy number variations (CNVs) in one test leveraging next-gen sequencing. In Part I, we reviewed genetic variation in humans and looked at the key… Read more »

Secondary Analysis 2.0 – Part IV

Detection of CNVs

Examples of CNV Calling What do CNV calls actually look like? What are some of the key metrics to determine an event? Part IV of the Secondary Analysis 2.0 blog series will answer these questions by walking through some examples of how our CNV caller, VS-CNV, identifies CNVs. Golden Helix integrates multiple metrics to determine if a CNV event is… Read more »

Secondary Analysis 2.0 – Part III

Detection of CNVs

Detection of CNVs in NGS Data Our Secondary Analysis 2.0 blog series continues with Part III: Detection of CNVs in NGS Data. We will give you an overview of some design principles of a CNV analytics framework for next-gen sequencing data. There are a number of different approaches to CNV detection. The published algorithms share common strategies to solve the… Read more »