Tag Archives: Golden Helix

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 »

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 »

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 »

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 »

Simplify Your GWAS & Genomic Prediction with SVS

Genome-Wide Association Studies

SVS is a project-oriented program that manages and analyzes genomic datasets. This webcast statistically and visually explores the relationships among genetic variants within a cattle dataset. Even further, this webcast evaluates genotypes with corresponding phenotypes to assess how well a model can predict a phenotype of interest. Starting with genotypic data from the microarray and the recorded phenotypic data for… Read more »

Reflecting on AMP 2019

      Andreas Scherer    November 14, 2019    No Comments on Reflecting on AMP 2019

Our team has returned from the annual meeting of the Association of Molecular Pathology (AMP 2019), and, as always, I am grateful for all the wonderful experiences we are bringing back with us. The plenary sessions and talks were bountiful, and we were very impressed with the well-organized exhibition. Hats off to everyone involved in planning this great event! Innovation… Read more »

End of Year Bundles 2019

      Delaina Hawkins    November 12, 2019    No Comments on End of Year Bundles 2019

It’s the most wonderful time of the year; our software specials are here! Now is the time to implement a Golden Helix solution to automate your workflows and analyze variants quick, easy, and affordably with our Year-End Bundles. Select packages which come once a year… these deals have been designed to fit your lab’s needs – and budget. Please note… Read more »

See you at AMP 2019 in Baltimore!

The Golden Helix team is excited to be headed to Baltimore for the AMP 2019 Meeting, and we hope to see you there! You will find our team at booth #2856. Swing by or schedule a time to talk with us one on one about how Golden Helix’s platform is redefining next-gen sequencing analysis. Our team would love to hear… Read more »

Reflecting on ASHG 2019

      Andreas Scherer    October 22, 2019    No Comments on Reflecting on ASHG 2019

As our team returns from another successful ASHG conference, I would like to reflect on the great memories, connections, and future plans that were made at this meeting. First, I will start by thanking everyone involved with the superb planning and execution of the conference. We are thankful to have this opportunity to connect with our customers, partners, and friends… Read more »

Clinical Validation of Copy Number Variants Using the AMP Guidelines

The common approaches to detecting copy number variants (CNVs) are chromosomal microarray and MLPA. However, both options increase analysis time, per sample costs, and are limited to the size of CNV events that can be detected. VarSeq’s CNV caller, on the other hand, allows users to detect CNVs from the coverage profile stored in the BAM file, which allows you… Read more »

Oncogenicity Scoring in VSClinical

Oncogenicity Scoring in VSClinical

Before examining the clinical evidence associated with a specific mutation, a clinician must establish that the variant is likely to be a driver mutation which generates functional changes that enhance tumor cell proliferation. Our recent blog series “Following the AMP Guidelines with VSClinical” briefly mentioned how the oncogenicity scoring system in VSClinical could be used to automate and assist the… Read more »

Customer Publications Throughout September 2019

customer

From diagnosing, treating and preventing diseases in humans and animals, to preserving our global food supply, Golden Helix products are being used all over the world! In September, we were cited in many publications spanning a diverse range of species and topics. Below are brief recaps of a few of the studies where SNP & Variation Suite (SVS) and VarSeq… Read more »

Getting the most out of Sentieon

      Will McDonald    September 26, 2019    No Comments on Getting the most out of Sentieon
Sentieon

Customers are always asking for ways to improve their experience with Sentieon, our partner’s secondary analysis tools that process genomics data with high computing efficiency, fast turnaround time, exceptional accuracy and 100% consistency. We have a few tips to get the most out of Sentieon. In this article I will be going over: Basic system requirements Custom scripts vs default… Read more »