Tag Archives: Golden Helix

Kaviar and Allele Frequency Aggregator (ALFA): the databases you didn’t know existed in VarSeq.

         August 4, 2020

In the search for disease causing mutations it is important to determine if the variant has been previously observed in humans and at what frequency. With the advent of increasing genomic information, there is now a variety of different databases and annotation sources that can be utilized. For some, this could be a tedious task that leads only to implementing… Read more »

Customer Publications Throughout July 2020

         July 30, 2020
customer

In this month’s Customer Publications blog post, our VarSeq software is taking center stage! From whole exome sequencing to copy number variant calling, VarSeq can be used for a range of scientific investigations. Although this blog features several examples of cancer investigations in human patients, it’s interesting to see how this platform can be utilized in a variety of investigational… Read more »

WT1 Mutations: Side-by-Side Germline and Somatic Variant Evaluation in VSClinical

         July 28, 2020

It is common knowledge that variants can be germline or somatic depending on whether the variant was inherited or acquired after birth. A well-known example is cancer-causing mutations in the BRCA genes, wherein the mutation may or may not have been inherited. Understanding the origin of the cancer-causing mutation is important when assessing potential treatment options as well as identifying… Read more »

Coming to SVS: LiftOver Capability

         July 23, 2020

The world has been making a shift to use GRCh38 human genome reference coordinates, but the transition has not been fast. Many of the mainstay human catalog projects are changing to use native GRCh38 catalogs, or are remapping their current data to GRCh38 coordinates. While this seems to be the advancing goal, it is leaving researchers and analysts with the… Read more »

Webcast Recap: Whole Genome Trait Association in SVS

         July 21, 2020
VS-CNV Annotations

Thank you to everyone who joined our webcast, “Whole Genome Trait Association in SVS.” 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 questions. Unfortunately, we were unable to answer them all, but we have compiled some of the… Read more »

Using the AMP Guidelines for Rhabdoid Tumor Analysis in VSClinical

         July 15, 2020

Introduction: Malignant Rhabdoid tumors (MRT) are among the most aggressive and lethal forms of infant and child cancer (1). These tumors are characterized by an unusual combination of mixed cellular elements similar to but not typical of teratomas and can originate at any anatomic location. When MRTs are present in the brain, they are called atypical teratoid/rhabdoid tumors (AT/RT), which… Read more »

Customer Publications Throughout June 2020

         June 25, 2020
customer

As I prepared to write the Customer Publication blog this month, I was excited by the number of recently published papers that stood as examples of how both VarSeq and SVS software are employed to advance diagnostics and treatments in human medicine. We often think of SVS as the go-to platform for Agrigenomics, however both of our platforms have broad… Read more »

Featured in Clinical OMICs: Enabling Precision Medicine with Cutting-Edge NGS Technologies

         June 22, 2020
Clinical OMICs May/June 2020

It is an honor to be featured in the Clinical OMICs May/June 2020 issue in a Q&A with the Editor discussing the past, present, and future of Golden Helix. In this article, I detail: Our most significant success throughout the past five years How our products differentiate Golden Helix in the market Our most significant opportunities in the next five years. If… Read more »

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

         June 18, 2020

The University of Washington’s Combined Annotation Dependent Depletion (CADD) algorithm 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 one of the most widely used tools to assess human genetic variation. Since 2014, the algorithm has been… Read more »

Updates to Default Transcripts and Gene Preferences in VarSeq

         June 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 variant interpretation, different transcripts can result in widely different predicted… Read more »

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 questions. Unfortunately, we were unable to answer them all, but… Read more »

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. You can access this article directly by visiting https://www.clinicallabmanager.com/thought-leadership/leveraging-next-generation-sequencing-technology-in-the-fight-against-covid-19-22584. If this is an area of interest for your organization, please reach out to our team and we would be happy to discuss this in more detail.

Recent Customer Publications – April 2020

         April 30, 2020
customer

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 of some of the great work being done in the fields of human medicine, ecology, and breed conservation of animal species. As always, we are so very proud… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part IV

         April 28, 2020

Next-Generation Sequencing (NGS) technology has decreased the price of nucleotide sequencing exponentially in the last 10 years. The clinical applications are broad, from diagnosis of rare diseases, to carrier screening and hereditary disease risk, and finally, for the personalized treatment of cancer with molecular profiling of tumors for therapeutic, diagnostic, and prognostic genomic biomarkers.  Discovery and Sharing of the Reference Genome for SARS-CoV-2  With… Read more »

Detecting de Novo Copy Number Inheritance and Family Segregations

         April 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 phenotype or disease. Given the nature of Copy Number Variants… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part III

         April 21, 2020

*The following text is only a preview of our new eBook “Genetic Analysis of the COVID-19 Virus and Other Pathogens”. Request a free copy to access the full version.* Next-Gen Sequencing (NGS) of the novel virus can make a tremendous contribution in enhancing our understanding of the underlying pathways in which it impacts humans. In a short period of time… Read more »

Golden Helix Recognized in GHP Magazine’s 2020 Biotechnology Awards

         April 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 Biotechnology Awards. Boasting impressive market value growth with no… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part II

         April 14, 2020

*The following text is only a preview of our new eBook “Genetic Analysis of the COVID-19 Virus and Other Pathogens”. Request a free copy to access the full version.* SARS-CoV-2 has just been recently discovered. The knowledge about this virus is fairly new and certain aspects of it are still under review or in-flux entirely as we learn more about… Read more »

Genetic Analysis of the COVID-19 Virus and Other Pathogens: Part I

         April 7, 2020

*The following text is only a preview of our new eBook “Genetic Analysis of the COVID-19 Virus and Other Pathogens”. Request a free copy to access the full version.* At the end of 2019, a virus appeared somewhere in the Chinese city of Wuhan. It caused cold and flu-like symptoms in most, but also pneumonia and death in a few…. Read more »

2020 Abstract Competition Winners

         February 18, 2020
2020 Abstract Competition Winners

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 Clinical Review of a Patient’s WGS Results Leads to a… Read more »