Search results for “Cancer”

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: Huntington’s Disease (HD)

Aug 12, 2019

Huntington’s Disease (HD) Background Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disease that is caused by a mutation in the huntingtin (HTT) gene resulting in 36 or more CAG trinucleotide repeats in exon 1. Individuals affected by HD experience motor disorders including involuntary movements and poor coordination, cognitive impairments…

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Variant Interpretation with VSClinical: Congenital Myasthenic Syndromes (CMS)

Jul 26, 2019

Congenital Myasthenic Syndromes (CMS) History: Congenital Myasthenic Syndromes (CMS) are a group of rare hereditary conditions that can cause seizures, severe muscle weakness, respiratory problems, and potentially disabling weaknesses shortly after birth or early childhood (1). CMS is the result of abnormalities in acetylcholine proteins residing in the motor endplate…

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Variant Interpretation with VSClinical: Evaluation of Hypertrophic Cardiomyopathy

Jul 9, 2019

Hypertrophic Cardiomyopathy History It was December 9th, 1989, when one of Loyola Marymount’s strongest inside players, Hank Gathers, collapsed during the middle of a collegiate level basketball game against UC Santa Barbara. Measuring in at 6’7” and weighing 210 pounds, Gathers was diagnosed with exercise-induced ventricular tachycardia, or in layman’s…

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Variant Interpretation with VSClinical: Evaluation of an X-linked Recessive Mutation

May 21, 2019

Overview VSClinical enables users to evaluate variants according to the ACMG guidelines in a high-throughput fashion and obtain consistent results and accurate variant interpretations. This feature is tightly integrated into our VarSeq platform as well, and when paired together, users can evaluate NGS data and obtain clinical reports all in…

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Variant Interpretation with VSClinical: Clinical Example for Congenital Indifference to Pain

May 16, 2019

VSClinical provides a rapid-fire way to investigate any variant’s impact by following the ACMG Guidelines process for classification. We will be demonstrating this by looking at interesting examples of rare disorders and showcasing some evaluation steps users may deploy in their analysis. Our first example in this blog series is…

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Golden Helix Receives NIH-SBIR Phase 2 Grant 2R44 GM128485-02

Mar 28, 2019

Golden Helix, Inc. has announced themselves as the recipient of an NIH SBIR Grant 2R44GM128485-02 entitled “Automated and Guided Workflows for Clinical Testing Using NGS Assays.” “With the help of this grant, we will take the clinical automation of NGS data to the next level, focusing on germline diseases and…

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Case Study: Odense University Hospital

Feb 7, 2019

The Department of Clinical Genetics at Odense University Hospital offers a variety of genetic analyses for families of syndromic children and other inherited conditions, averaging 4,000 genetic analyses per year. In 2016, the lab decided to introduce whole exome sequencing to their offerings to take over a lot of the…

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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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VSClinical Best Practice Workflows: Part I

Nov 13, 2018

VSClinical is our most recent product that allows users to evaluate variants according to the ACMG guidelines. As with any tertiary analysis, there is a need to implement best practices into your workflow and using VSClinical for the ACMG guidelines is no exception. That said, we have put together a…

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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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Using the GRCh38 Reference Assembly for Clinical Interpretation in VSClinical: Webcast Q&A

Sep 27, 2018

This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing [email protected]. Does VSClinical come with support for the new reference genome? Yes! We worked hard to make everything work in VSClinical regardless of…

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Using VS-CNV to Detect High-Quality Copy Number Variant Events

Sep 14, 2018

In my recent webcast, I demonstrated how VS-CNV users can detect high-quality copy number variant events. If you didn’t have a chance to join, you can view the recording below! This webcast generated a lot of great questions! If you have any other questions about the content covered in this…

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GWAS Quality Control Within SVS

Aug 23, 2018

Genome-wide association studies (GWAS) are useful in genetics as they test for the association of a phenotype with common genetic variants. GWAS is “hypothesis-free” and does not require prior knowledge of a gene’s biological impact on a trait. The catch though is that this leads to analyzing hundreds to thousands…

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Customer Publications From Around the Globe

Aug 17, 2017

It’s fascinating to hear the various ways our products are being used by customers all around the world. This month we’re featuring publications citing VarSeq, SVS and HelixTree which cover studies from Schizophrenia, Multiple Sclerosis and more. We hope you enjoy! Exome sequencing in schizophrenic patients with high levels of homozygosity identifies…

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UCLA Health Diagnoses Long Running Medical Mystery

Aug 3, 2017

We don’t just like hearing what our clients are up to … we love bragging about what they’re doing to the world as well! This week we’re showcasing Dr. Stanley Nelson, and his team at UCLA Health, who used next-generation sequencing and our VarSeq software to help diagnose a child’s…

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Frequently Asked Questions: CNV analysis in VarSeq

Jul 20, 2017

The support team at Golden Helix is always here to help with your SVS and VarSeq needs. Often, we receive some excellent questions that should be shared with the rest of our users. This blog will answer some common questions we’ve been seeing lately regarding VarSeq CNV. I’ve noticed there is a version 2…

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Secondary Analysis 2.0 – Part I

Jul 18, 2017

Human genetic variation makes us unique. On average, humans are to 99.9% similar to each other. Understanding in detail what the nature of the difference in our genetic make-up is all about allows us to assess health risks, and eventually enables Precision Medicine as we determine treatment choices. Furthermore, it…

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Webcast: An Exploration of Clinical Workflows in VarSeq

Jun 29, 2017

Our July webcast presentation will be focused on clinical workflows in VarSeq. We wanted to share the full details with you and hope you are able to attend! Wednesday, July 12th 12:00 PM EST This month’s webcast is a VarSeq exploration, featuring several example workflows and helpful features in VarSeq…

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Golden Helix, Inc. – Your Annotation Curation Station

Jun 15, 2017

The current reduced cost and increase availability of genome sequencing has been making academics, clinicians and individuals alike excited with the possibility of increased research depth, diagnosing capability and personal curiosity. And although a freshly sequenced genome is chock-full of tasty letter snippets, the real revelation and education occurs when…

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