Golden Helix Blog

Updated GRCh38 VarSeq Project Templates

Feb 4, 2020

As many of our users know, GRCh38 VarSeq project templates come preloaded with the software and are designed to give users a baseline workflow to streamline their NGS analysis. These templates are tailored for various applications including tumor-normal, trios, cancer and hereditary gene panels, and ACMG Guidelines workflows. The templates…

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Cyber Security Strategies for NGS Testing Labs: Part II

Jan 30, 2020

Data and cyber security breaches are a fact of life. Organizations are aware of the threats and putting their best efforts up to prevent them as much as possible. Industries across the entire spectrum have been exposed in recent years. I will go through a few examples to show how pervasive…

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Customer Publications Throughout January 2020

Jan 28, 2020

January 2020 has started strong for Golden Helix customers who are engaged in research projects! We are delighted to see so many publications in January 2020 citing our products. As always, we are proud to be a part of these scientific discoveries as well as many others, too numerous to…

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Customizing Your VSClinical Workflow: Part II

Jan 27, 2020

In the first part of this series, we covered how VarSeq supports customizing ACMG guidelines in VSClinical to streamline the clinical analysis workflow. 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…

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Cyber Security Strategies for NGS Testing Labs: Part I

Jan 23, 2020

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…

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Introducing Drugs and Trials for Cancer Diagnostics

Jan 23, 2020

When interpreting a variant using the AMP 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 sources, including clinical trials,…

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Customizing Your VSClinical Workflow: Part I

Jan 14, 2020

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…

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New eBook Release: Cyber Security Strategies for NGS Testing Labs

Jan 9, 2020

We’re excited to kick off the year with the release of our latest eBook, “Cyber Security Strategies for NGS Testing Labs“. As precision medicine continues to transform healthcare through data-driven diagnostics and targeted therapies, it brings with it a new set of challenges—particularly around protecting sensitive genomic data. Traditionally, clinical laboratories and…

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Off to PAG XXVIII!

Jan 7, 2020

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…

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What to expect from Golden Helix in 2020!

Jan 3, 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: Now, for 2020 we will plan…

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Customer Publications Throughout December 2019

Dec 26, 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…

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Securing Your Genomic Testing with Golden Helix

Dec 19, 2019

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…

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

Dec 19, 2019

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…

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VS-CNV: Golden Helix’s Solution to Replace Traditional Methods

Dec 17, 2019

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,…

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

Dec 12, 2019

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”…

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Somatic Variant Calling with Sentieon: Customizations

Dec 10, 2019

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…

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GWAS & Genomic Prediction Webcast Q&A

Dec 5, 2019

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…

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

Dec 3, 2019

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,…

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Customer Publications Throughout November 2019

Nov 26, 2019

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…

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The New VSClinical ACMG Guidelines Tutorial

Nov 21, 2019

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…

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