Golden Helix Blog

CADD Scores: New and Improved CADD v1.4 and CADD v1.5

Jun 18, 2020

The University of Washington’s Combined Annotation Dependent Depletion (CADD) algorithm, now available in CADD v1.4 and CADD v1.5, measures the deleteriousness of genetic variants. This includes single nucleotide polymorphisms (SNVs) and short insertions and deletions (indels) throughout the human reference genome assembly. This algorithm was introduced in 2014 and has since become…

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Exporting Genes as Exon Regions in VS-CNV

Jun 16, 2020

We have had many customers come to us over the years with a simple problem: they have BAM files for whole exome or gene panel data and would like to call CNVs using VarSeq’s powerful CNV calling capabilities, but they don’t have a bed file defining the target regions for…

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Recent Webcast: Evaluating Oncogenicity in VSClinical

Jun 11, 2020

Abstract Before assessing the clinical significance of a somatic mutation, one must determine if the mutation is likely to be a driver mutation (i.e. a mutation that provides a selective growth advantage, thereby promoting cancer development). To aid clinicians in this process, VSClinical provides an oncogenicity scoring system, which uses…

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Updates to Default Transcripts and Gene Preferences in VarSeq

Jun 9, 2020

An under-appreciated area of complexity when looking into the field of genetics from the outside can be found in genes and transcripts. Alternative splicing allows eukaryotic species to have a wonderfully powerful genetic code, resulting in multiple protein isoforms being encoded in a single section of DNA. But when it comes to…

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Coping Mechanisms in the COVID-19 World

Jun 4, 2020

Like many of you, I was supposed to attend the 2020 ACMG Meeting in San Antonio this March with a few colleagues. In addition to attending the conference, my first blog post for Golden Helix was going to be about our time at the conference. Thanks to the world-wide COVID-19…

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An Open Letter to Our Community

Jun 3, 2020

Dear All, Going back in time to the beginning of this year, it would have been difficult to imagine what our world would look like as of June 2020. Things changed quickly. While we are still in the midst of the COVID-19 pandemic, the senseless killing of George Floyd triggered…

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Customer Publications Throughout May 2020

May 29, 2020

Writing the blog post to summarize and highlight our customer’s publications is undoubtedly one of my favorite things to do! The wide variety of topics is always surprising and inspiring, and I am humbled by the efforts of dedicated scientists who are helping to protect and enrich our lives in…

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Golden Helix Named as Top 10 Genetic Diagnostics Companies of 2020

May 28, 2020

Today, we’re thrilled to announce that Healthcare Tech Outlook has named Golden Helix among the Top 10 Genetic Diagnostics Companies of 2020. This recognition places us alongside a remarkable group of companies that are leading innovation in genomics, diagnostics, and precision medicine. We are honored to receive this distinction and…

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Auto-Updating Template Sources

May 21, 2020

In VarSeq 2.2.1, you can enable auto-updating for template annotation sources, ensuring they always reflect the latest available version. Previously, VarSeq templates were frozen in time. Now, each new project created from a template would use the same source that was used when the template was created. When you save…

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Genome Wide Association Tests and Mixed Linear Models in SVS

May 19, 2020

SVS offers several options to conduct genome wide association tests and mixed linear models. At times, it can be challenging to decide which test, model, or adjustments to use when setting up your analysis. I want to briefly explore the options available in SVS for association tests, and mixed linear…

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Clinical Variant Analysis for Cancer eBook – Second Edition

May 14, 2020

At Golden Helix, we’re committed to advancing precision oncology through robust software solutions that streamline clinical workflows. As the field of cancer genomics continues to evolve, staying informed about the latest best practices and tools is more important than ever. That’s why we’re excited to announce the release the second…

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Webcast Recap: Next-Gen Sequencing of the SARS-CoV-2 Virus with Golden Helix

May 13, 2020

Thank you to everyone who joined me for our latest webcast, “Next-Gen Sequencing of the SARS-CoV-2 Virus with Golden Helix.” If you missed the live event and are interested in knowing what we talked about, you may access the recorded event below: Our Live Q&A generated a lot of great…

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Featured in Clinical Lab Manager: Leveraging Next-Generation Sequencing Technology in the Fight Against COVID-19

May 5, 2020

It is an honor to be featured by Clinical Lab Manager where I discuss how Next-Gen Sequencing can be leveraged in the fight against COVID-19.The ongoing COVID-19 pandemic has challenged healthcare systems across the globe. While lockdowns and social distancing measures helped slow the spread, they are not long-term solutions. Most…

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Recent Customer Publications – April 2020

Apr 30, 2020

Scientific investigations and genetic discoveries continue to happen in several diverse areas even while our world is currently consumed by the greatest health challenge of our era. Below are a few examples from April 2020, showcasing some of the great work being done in the fields of human medicine, ecology,…

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Detecting de Novo Copy Number Inheritance and Family Segregations

Apr 23, 2020

In trio workflows, one of the most important factors in scoring a variant is understanding how that variant is inherited from the parents. Likewise, when looking at extended families, the segregation, or presence of the variant among the affected versus unaffected individuals provides evidence for its pathogenicity for a given…

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Golden Helix Recognized in GHP Magazine’s 2020 Biotechnology Awards

Apr 14, 2020

We are honored to be recognized in this year’s 2020 Biotechnology Awards by GHP Magazine — thank you!Find the full list of winners here. “Covering a variety of verticals, including bio agriculture, bio services, bio industrial and biopharmaceutical, the biotechnology market are under the microscope in Global Health & Pharma’s…

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VarSeq 2.2.1 Release Notes

Apr 10, 2020

VarSeq 2.2.1 was released on April 1st and features an upgraded gene annotation capability with new RefSeq genes tracks and an AMP workflow addition: the Drugs and Trials tab. The new RefSeq human genome genes tracks contain updated gene names and the recognition of any MANE (Matched Annotation from NCBI…

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Webcast Recap: Using VarSeq Templates to Advance and Customize Variant Analysis

Apr 9, 2020

Thank you to everyone who joined me for yesterday’s webcast, Using VarSeq Templates to Advance and Customize Variant Analysis, I hope you all enjoyed it. If you missed the live event and are interested in knowing what we talked about, good news, you can watch the recorded version right here!…

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Golden Helix Discounted Software for COVID-19 Related Projects

Apr 6, 2020

Supporting the Fight Against COVID-19: Discounted Software Licenses for Clinical Research For more than 20 years, Golden Helix has remained steadfast in our mission to empower precision medicine around the globe. Throughout this time, we’ve had the privilege of supporting clinicians, researchers, and healthcare professionals working at the forefront of…

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The New ACMG-Based Trio Tutorial

Apr 3, 2020

Our Support Team curates a variety of tutorials to help orient new users to the capabilities of VarSeq. We are happy to announce the team’s new release of the trio tutorial that places emphasis on using the ACMG guidelines. This tutorial gives insight into the proper setup of pedigree structure…

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