Golden Helix Blog

VarSeq Copy Number Variant Caller Tutorial

Feb 20, 2020

Since the initial release of the copy number variant algorithms in VarSeq, our team has created a variety of content to help users get started with building their copy number variant projects. In our webcast library, you can find a few of our recent webcasts in 2019 covering CNV workflows…

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2020 Abstract Competition Winners

Feb 18, 2020

We would like to thank everyone who entered our 2020 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Dr. Robert Hamilton and Priyanka Kugamoorthy – SickKids Yearly…

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Cyber Security Strategies for NGS Testing Labs: Part IV

Feb 13, 2020

Golden Helix is in a unique position to provide a secure on-premise analysis solution. This capability is based on two enablers. First, we build our software solutions from scratch and from the ground-up with the assumption that it should run on any operating system and potentially behind firewalls or even without internet access. Second, we provide these…

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Golden Helix Recognized as one of the Top 60 Genetics Blogs on the Web

Feb 11, 2020

We are incredibly grateful to be recognized as one of the Top 60 Genetics Blogs on the Web by Feedspot. Our team is dedicated to educating our readers on how our solutions can help enable precision medicine, and we are so honored to have received this recognition.  On our blog, you will…

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Cyber Security Strategies for NGS Testing Labs: Part III

Feb 6, 2020

Cyber security threats to organizations are more diverse and dangerous than ever, ranging from curious teenagers testing their skills to insider threats and state-sponsored hackers. On the highest-end, some state-financed actors extend their reach as far as possible into foreign countries. Motivation and intentions might vary, but the outcome for the targeted…

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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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