Search results for “CNV”

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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VarSeq Cancer Gene Panel Tutorial

Mar 3, 2020

At Golden Helix, we want our new users to hit the ground running with VarSeq and not spend oodles of time getting started building and automating their workflows. To achieve this goal, our team has generated blogs, webcasts, and tutorials that explain and demonstrate workflows that are possible with VarSeq.…

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Customer Publications Throughout February 2020

Feb 27, 2020

Our customers are making great contributions to human research and precision medicine every month! In February 2020, VarSeq’s Clinical Suite dominated the published works citing Golden Helix. It is an honor for us to be at the forefront of so many important genetic investigations and we appreciate the efforts of…

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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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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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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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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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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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Reflecting on AMP 2019

Nov 14, 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…

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All New VSClinical AMP Workflow Tutorial

Nov 5, 2019

We have recently added a tutorial to help introduce customers to the ease and utility of the AMP Guidelines incorporated in VarSeq’s VSClinical package. The AMP Guidelines allow users to sort through available clinical evidence in a streamlined fashion to arrive at final classification and interpretation and then transfer that…

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Customer Publications: A Salute to Breast Cancer Awareness Month

Oct 29, 2019

With October being recognized as Breast Cancer Awareness Month, the team at Golden Helix thought it would be appropriate to pay tribute to some of the publications that over the years, have contributed to the many discoveries made in breast cancer diagnosis, prediction, underlying causes, and case management. We are…

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VarSeq 2.2.0 Release Notes

Oct 23, 2019

VarSeq 2.2.0 was released today and this a stable release full of upgrades and polishes. Some of the newer features include the ability to store and include AMP Cancer assessment catalogs on VSWarehouse, quicker accessibility to common annotations plotted in GenomeBrowse, and the addition of all of our standard templates…

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Reflecting on ASHG 2019

Oct 22, 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…

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Headed to Houston, TX for ASHG 2019

Oct 14, 2019

Our team is getting ready to head to Houston, Texas for the American Society of Human Genetics Annual Meeting (ASHG) 2019. We are looking forward to spending the week discussing genetics with new and familiar faces! If you are planning on attending, please stop by our booth and say hello!…

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Copy Number Variants Using AMP Guidelines

Oct 10, 2019

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…

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Customer Publications Throughout September 2019

Sep 29, 2019

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…

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Variant Interpretation with VSClinical: RET-KIF5b Gene Fusion

Sep 24, 2019

Gene Fusion Background Gene fusions are hybrid genes that result from translocations, interstitial deletions, or chromosomal inversions that can lead to constitutive gene activation and result in increased or abnormal protein production. Increased or abnormal protein production subsequently can play an important role in tumorigenesis and thus identifying and evaluating…

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Following the AMP Guidelines with VSClinical: Part II

Sep 5, 2019

VSClinical  users can interpret and report genomic mutations in cancer following the AMP guidelines which we’re demonstrating in this “Following the AMP Guidelines with VSClinical” blog series. Part I introduced the hands-on analysis steps involved in creating a high-quality clinical report for targeted Next-Generation Sequencing (NGS) assays. We reviewed sample and variant quality, including the depth of coverage over the target…

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