Customer Publications Throughout January 2020

2020 has started strong for Golden Helix customers who are engaged in research projects! We are delighted to see so many publications in January citing our products. As always, we are proud to be a part of these scientific discoveries as well as many others, too numerous to mention! With depth impossible to capture in a few words, I encourage… Read more »

Customizing Your VSClinical Workflow: Part II

Customizing VSClinical ACMG Guidelines Workflow Part 2  In the first part of this series, we covered how VarSeq provides customization of the clinical analysis workflow process. VSClinical’s various customization parameters within the ACMG Guidelines workflow includes the choice of how the internal knowledge base of previous variant interpretations are stored and what considerations go into this choice. In this blog, we… Read more »

Cyber Security Strategies for NGS Testing Labs: Part I

Hospitals and testing labs are undergoing a digital transformation like any other business in our time. They deal with personal data in categories with the highest level of security requirements: personal identity and medical records. The architecture chosen to store and analyze this data is critical to provide the best protection against a data breach incident. The liability and institutional… Read more »

Introducing Drugs & Trials for Cancer Diagnostics

Join us on February 12th to get a first-look on our new VSClinical capability! When interpreting a variant using the AMP/ASCO guidelines for somatic variant interpretation, clinicians must determine whether the variant can be considered a biomarker that affects clinical care by predicting sensitivity, resistance, or toxicity to a specific therapy. Such a determination requires the investigation of multiple evidence… Read more »

Customizing Your VSClinical Workflow: Part I

Clinical labs offer a unique and sophisticated product that is performed repeatedly with high standards of quality. VarSeq was developed to provide labs with the customization required for clinical genetic tests in a repeatable workflow. On top of this, VSClinical offers additional parameters and choices that can be made when designing the test workflow. In this blog series, we will… Read more »

New eBook Release: Cyber Security Strategies for NGS Testing Labs

I am delighted to be starting the year with releasing a new eBook, “Cyber Security Strategies for NGS Testing Labs”. The field of Precision Medicine is at the forefront of changing the face of healthcare. It changes how we diagnose patients and provides new treatment options that did not exist just a few years ago. It is data-driven by nature. As a… Read more »

Off to PAG XXVIII!

      Delaina Hawkins    January 7, 2020    No Comments on Off to PAG XXVIII!

We’re packing our bags and getting ready to head out to San Diego, CA for the International Plant & Animal Genome XXVIII meeting (or PAG 2020). This is the largest ag-genomics meeting in the world, bringing together over 3,000 leading genetic scientists and researchers in plant and animal research, and over 120 exhibits, 140+ workshops, 1000+ posters, and 1700+ abstracts. We… Read more »

What to expect from Golden Helix in 2020!

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 »

Customer Publications Throughout December 2019

In advance of the Plant & Animal Genome conference in January in San Diego, CA, it made sense to showcase those working in Agrigenomics in the December Customer Success blog post! The published works this month also perfectly illustrate how SVS software can generate valuable GWAS and Genomic Prediction data for the agricultural industry. We look forward to seeing you… Read more »

Securing Your Genomic Testing with Golden Helix

Genetic testing labs deal with personal data in categories with the highest level of security requirements: personal identity and medical records. Given the liability and risk associated with a breach of this secure information, it is not surprising that many labs and institutes that aggregate genomic data prefer, if not require, on-premise analysis and storage solutions.  Golden Helix is in… Read more »

Golden Helix’s End-to-End Architecture for Clinical Testing Labs

Golden Helix's End-to-End Architecture

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 »

VS-CNV; Golden Helix’s solution to replace traditional methods

Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Although CNV events are rare in the human population, constituting approximately 10% of the human genome, they are also associated with being causal mutations for disease phenotypes. Because of this, it is important for clinical and research settings to identify… Read more »

Using the K-Fold Cross-Validation Statistics to Understand the Predictive Power of your Data in SVS

SVS 8

Using the K-Fold Cross-Validation Statistics to Understand the Predictive Power of your Data in SVS In cross-validation, a set of data is divided into two parts, the “training set” and the “validation set”. A model for predicting a phenotype from genotypic data and (usually) some fixed effect parameters is “trained” using the training set—that is, the best value(s) of the… Read more »

Somatic Variant Calling with Sentieon: Customizations

Sentieon

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 »

GWAS & Genomic Prediction Webcast Q&A

Thank you all for tuning in to yesterday’s webcast, “Simplify Your GWAS & Genomic Prediction with SVS”. I hope you all enjoyed it as much as I did! If you didn’t get a chance to join us for this live webcast, you can watch the recording below. We covered a lot of topics in so little time, but you all… Read more »

Fast Annotations Around the Globe: Our Sydney and Frankfurt Data Mirrors

Server Mirror

If you have watched this blog over time, it would be no surprise that Golden Helix invests a lot in curating genomic annotations for use with our clinical and research analysis products. Often, we spend considerable time on the attention to detail necessary to ensure the best experience for any data source by cleaning, normalizing, documenting and then distributing it through our data annotation server. Many annotations… Read more »

2019/20 Abstract Competition

      Andreas Scherer    November 28, 2019    No Comments on 2019/20 Abstract Competition
Recent Customer Publications

We look forward to hearing how you are using Golden Helix software in your clinical or research work! Golden Helix strives to enable precision medicine by developing powerful software to support researchers and clinicians with complex analysis. One of my favorite events of the year is our abstract competition. This competition allows us to help our community by recognizing innovative… Read more »

Customer Publications Throughout November 2019

November Publications

November is the month where we pause to reflect on what we are thankful for. At Golden Helix, we are thankful for the many dedicated scientists and practitioners who are tirelessly working on new discoveries to enhance the lives of humans and preserve our food supply in the face of ever-changing conditions in agriculture. As always, we are proud to… Read more »

The New VSClinical ACMG Guidelines Tutorial

Our tutorials are a popular resource for prospective users. We have added a tutorial to help introduce customers to the ease and utility of the ACMG Guidelines incorporated in VSClinical. The ACMG Guidelines are a collection of 33 criteria that are used to determine a variant’s level of pathogenicity. VSClinical and VarSeq make it easy for users to sort and… Read more »

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 »