Search results for “CNV”

Customer Publications Throughout Summer 2019

Aug 26, 2019

We are always excited to see how our software is used to support research and enable precision medicine. We believe that our customer’s success is ultimately our success! This summer was filled with many wonderful publications from across the globe and we are proud to have been a part of…

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Following the AMP Guidelines with VSClinical: Part I

Aug 23, 2019

In the world of genomics shaping precision medicine in oncology, the limiting factor is the time-to-sign-out of a fully interpreted molecular profile report. There are many components of the entire testing process that add to the turn-around time of each test. Many of these steps, such as sample prep, sequencing, and automated secondary analysis,…

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Variant Interpretation with VSClinical: Non-Small Cell Lung Cancer

Aug 20, 2019

With the increasing knowledge of mutations involved in cancer, it is imperative to have a tertiary analysis pipeline that provides users with the most up to date information on somatic mutations. VSClinical’s Cancer Add-On does just that and more; with this feature, users can investigate and report on SNVs, indels,…

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Clinical Variant Analysis for Cancer: Part V

Jul 2, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants Detecting cancer at an early stage can make it much more treatable. Developing tests and making them clinically actionable is crucial to beat this disease. This eBook covers the state-of-the-art gene panel tests for cancer. Of course,…

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Clinical Variant Analysis for Cancer: Part III

Jun 18, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants As described in my eBook “Genetic Testing for Cancer,” any bioinformatic pipeline for cancer ultimately calls variants based on the aligned reads that the sequencer generated. Variant calling is the process of reviewing a sequence alignment, typically…

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Clinical Variant Analysis for Cancer: Part II

Jun 13, 2019

Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants Analogous to the ACMG guidelines for germline mutations, the Association for Molecular Pathologists (AMP) has issued guidelines to assess and report on somatic variants. The key paper in this area was published by Li et. al (2017)…

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New eBook Release: Clinical Variant Analysis for Cancer

Jun 6, 2019

Applying AMP Guidelines to Analyze Somatic Variants Today, I am thrilled to share with you the launch of a brand new eBook titled “Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants”. We would happy to send you a complimentary copy which can be requested on…

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Genetic Testing for Cancer – New Version Release

Jun 5, 2019

Yesterday, I released a new version of my eBook, “Genetic Testing for Cancer – Third Edition”. We would be happy to send you one! To download a complimentary copy, please submit a request on our site here. In 1914, the German cytologist Theodor Boveri coined the phrase “Cancer is a…

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Automating Clinical Workflows: Part III

Apr 19, 2019

In the previous two articles, we explored the different steps of a clinical workflow. The first post covered the automated analysis that creates a VarSeq project. While the second post covered the interpretation steps and generation of a clinical report. These posts illustrated the ease with which these complex tasks…

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Automating Clinical Workflows: Part II

Apr 11, 2019

In the previous blog post, we covered the automated steps to create a VarSeq project. Today we will examine the active analysis steps. These are the steps that require human interpretation to analyze the clinically relevant variants. A lab tech can take the first pass at the output in the…

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Automating Clinical Workflows: Part I

Apr 3, 2019

Automating a clinical workflow creates a stable and repeatable clinical analysis. Automation reduces the potential to introduce human error, helps in regulatory compliance, and improves the precision of the clinical results. It is important to know that if you run a sample through your clinical pipeline, you are going to…

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On Our Way to ACMG 2019

Mar 28, 2019

Our team is looking forward to an eventful week at ACMG 2019 in Seattle, Washington! If you are attending the conference, we hope you’ll stop by our booth and say hello to the team: Andreas Scherer, Ph.D., Gabe Rudy, and myself, Shanna Finley! We would love the opportunity to connect…

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2019 Abstract Competition Winners

Feb 25, 2019

We would like to thank everyone who entered our 2019 Abstract Competition. This event is an excellent opportunity for our team to hear the unique ways Golden Helix software is being applied around the world. We had a number of remarkable entries this year which made our selection process a…

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Heading to PAG 2019

Jan 10, 2019

Our team is more than ready to escape the cold at Golden Helix HQ for an eventful week at PAG XXVII in San Diego, CA! If you are attending the conference, we hope you will stop by our booth and say hello to the team: Dr. Andreas Scherer, Darby Kammeraad,…

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What to expect from Golden Helix in 2019!

Jan 3, 2019

Happy New Year. I trust you had a relaxing time over the holidays with family and friends as well as a great start into 2019. Golden Helix certainly had a landmark year. There were many highlights that actually shaped the direction for us in the years to come. Please let…

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SVS 8.8.3 Release

Nov 26, 2018

The SVS 8.8.3 release was created to incorporate some of the CNV, genome assembly control, and splice site capabilities that are present in VarSeq, as well as clean up and streamline the GWAS workflows (like when using Mixed Linear Model algorithms) for a better user experience. New Product Add-Ons for…

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VSClinical Best Practice Workflows: Part III

Nov 20, 2018

This blog will conclude our VSClinical Best Practice Workflow series and focuses on one of our new reports: VSClinical ACMG Gene Panel Template. This template is valuable because it automatically enters your variant interpretation from the ACMG Guidelines into the report and eliminates the need for manual submission. I would…

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Great Time at AMP 2018

Nov 6, 2018

We just got back from three busy days at the Molecular Pathology (AMP) conference in friendly San Antonio, Texas. Keeping up the Golden Helix conference momentum for the year, we had 3-4 in-booth demonstrations a day covering our CNV calling, variant interpretation, and data warehousing products for NGS-based genetic tests.…

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VarSeq Stable 2.1.0 Release Notes

Oct 31, 2018

VarSeq Stable 2.1.0 is Ready for Clinical Validation, See it in Action Next Week This week we are happy to see the general availability of VarSeq 2.1, the culmination of the last five months of work since we launched VSClinical. We have been blown away by the adoption of VSClinical,…

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We’re Headed to AMP 2018!

Oct 30, 2018

We’ve packed our bags and we’re off to The Lone Star State to take part in the Association for Molecular Pathology Annual Meeting and Expo (AMP 2018)! As first-time attendees, we’re looking forward to integrating ourselves in the AMP community and showcasing our clinical stack, including VSClinical released earlier this…

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