Customer Success

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. Their casework spans variant analysis across a broad range of inherited conditions. In 2016, the lab decided to introduce whole…

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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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VSClinical Best Practice Workflows: Part II

Nov 15, 2018

In part one of this series, we discussed how the ACMG Classifier can be implemented in your filter chain to support a best practice workflow. To continue our discussion on best practices of VSClinical, this blog will shed light on other attributes of VSClinical that can add support to your…

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Cited in 1,300+ Publications

Aug 28, 2018

Our goal is to assist clients with their research through and through - whether in a clinical or academic environment. We are honored to have the ability to display this commitment in over 1,300 of our users' publications in which our software is cited. 

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Fascinating customer publications

Aug 9, 2018

Are you curious how others are taking advantage of Golden Helix software to further their research and findings?  Well, look no further, here's a few of our customer's publications for you to check out.

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Cited in 1,200+ Publications

Feb 1, 2018

Golden Helix is fueled by our customers’ success; every product, every feature, every line of code is created to aid our users and their quest for discovery in the scientific community. As of today, our products have assisted users with 1,200+ publications. A process we know to be long, difficult…

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Robarts Research Institute & VS-CNV

Jan 5, 2018

One of our main focuses in 2017 was VS-CNV which allows clinicians to directly call CNVs in target regions quicker, easier and more affordably than CMA or MLPA testing. Our clients at Robarts Research Institute shared their recent publication with me which confirms that our time and dedication to our…

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Case Study: iTARGET Autism Project

Oct 3, 2017

Dr. Suzanne Lewis is a Clinical Professor in the Department of Medical Genetics at University of British Columbia (UBC) and Senior Investigator at British Columbia Children’s Hospital Research Institute (BCCHR), Vancouver, Canada. She is also the Chair of the iTARGET Autism Project and Vice-Chair of Autism Canada Chief Medical Officer…

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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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Our customer’s recent publications!

Jul 11, 2017

Summer is in full swing, and we are kicking off July with an excellent round of articles our customer’s published citing our SVS software. Check out the snippets below, there may be one in there that peaks your interest! Curtis Van Tassell of the USDA and colleagues published Whole genome structural…

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Recent Publications from SVS Users

Apr 25, 2017

We had lots of customers publish their work using our SVS software, and I wanted to share their work with you. Congrats to all! Here are some of the highlights: Francesca Fernandez of the University of Wollongong along with colleagues published Effects of common GRM5 genetic variants on cognition, hippocampal volume…

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Recent Customer Success

Jan 31, 2017

Just as we expected, 2017 has kicked off with a flurry of new publications by our customers. We even had a publication from a client using our VarSeq software! Congratulations to all, please take a look at some of the articles we have highlighted below: Reza Sailani of Stanford University and…

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Fighting Childhood Leukemia at St. Justine

Jan 19, 2017

Acute lymphoblastic leukemia (ALL) is the most frequently diagnosed cancer in children and one of the leading causes of death due to disease in children. Dr. Daniel Sinnett, along with Pascal St-Onge and their colleagues at Sainte-Justine University Health center have been investigating the molecular determinants of the disease to…

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Latest Customer Publications!

Dec 20, 2016

It sure is feeling like Christmas time in Montana with the piles of fluffy snow and negative temperatures! We are wrapping up the month with a few more publications from our clients, and we couldn’t be happier with how many articles were published in 2016! Congratulations to everyone who was able…

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Case Study: Children’s Hospital Los Angeles

Dec 6, 2016

Dr. Laura Li and her colleagues at the Children’s Hospital Los Angeles (CHLA) are working to determine the underlying genetic causes of Optic Nerve Hypoplasia (ONH), which is still unclear. ONH is the absence or under-development of the optic nerve and is currently the leading ocular cause of vision impairments…

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Using GWAS to Investigate Neurodevelopmental Disorders

Oct 18, 2016

Dr. Sergey Kornilov, a Duncan Scholar in Molecular and Human Genetics at Baylor College of Medicine, combines his broad psychology background with genetics to research the genetic basis of neurodevelopmental disorders with a unique dual perspective. Neuro-developmental disorders, for example, those of the spoken and written language, affect many worldwide –…

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Finding Rare Mutations at the Center for Rare Jewish Genetic Disorders

Jul 14, 2016

Since 1999, Bonei Olam has been providing large-scale funding for fertility treatment and research. The non-profit’s mission is to provide whatever means or resources necessary to help childless couples achieve the dream of parenthood. Today, it is recognized in the worldwide medical arena for its leadership role at the forefront…

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Understanding the Molecular Genetics of Hearing Loss

Jun 28, 2016

Hearing loss is the most common sensory defect in humans. It affects roughly 1 in 500 newborns, and by the age of 80 approximately 50% of people have some type of hearing loss. Hearing loss has become an enormous burden in healthcare. Perhaps more importantly, studies have shown that hearing…

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June’s Customer Publications

Jun 23, 2016

As spring ends and summer begins here in Montana, we wanted to share another round of customer publications. It’s so important to us that our software plays a role in our client’s success, and we love to display the fruit of their hard efforts each month. Here are a few of…

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