Category Archives: Customer success

Second-Place Abstract Competition Winner

         February 20, 2018

I hope you were able to join us for last week’s webcast where we invited first-place abstract competition winner Michael Iacocca to present on his submission “Using NGS to detect CNVs in familial hypercholesterolemia”. Today, I’d like to announce our second-place winner, Nicole Weaver, Clinical Geneticist at Cincinnati Children’s Hospital. Nicole adopted VarSeq into her research pipeline in 2015 and… Read more »

Cited in 1,200+ Publications

         February 1, 2018
1,200+ publications

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 and incredibly rewarding, it’s an absolute pleasure to be cited… Read more »

Robarts Research Institute & VS-CNV

         January 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 CNV capabilities was well worth it. I am delighted to… Read more »

Case Study: iTARGET Autism Project

         October 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 and VP Research of Pacific Autism Family Network. She and… Read more »

Customer Publications From Around the Globe

         August 17, 2017
customer

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 novel and extremely rare mutations in the GABA/glutamatergic pathways This… Read more »

UCLA Health Diagnoses Long Running Medical Mystery

         August 3, 2017
Recent Customer Publications

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 long running medical mystery. Audrey Lapidus knew there was something… Read more »

Top Three Most Popular Case Studies

         July 25, 2017
GHI case studies

We absolutely love case studies because they allow us to check in on our customers work and see how they are using our software. Not only is this useful feedback for our development team, but it is also an excellent way to share user experiences with prospective clients. We wanted to share a few snippets from our most popular case studies in case… Read more »

Our customer’s recent publications!

         July 11, 2017
1,200+ publications

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 analysis of Caribbean hair sheep reveals quantitative link to West… Read more »

Recent Customer Success

         May 30, 2017

As usual, we would like to share some of the articles that our clients have published recently citing our software. These articles are incredibly diverse and interesting, and we hope you enjoy browsing through them. Fielding Hejtmancik and Lin Li of the NIH-NEI and colleagues published Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani… Read more »

Recent Publications from SVS Users

         April 25, 2017
customer

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 and mGluR5 protein levels in schizophrenia in Brain Imaging and… Read more »

Recent Customer Success

         April 4, 2017
customer

We are kicking off the second quarter with a round of recent customer publications. There are a few new faces represented below, and we are delighted to share their success with you. We hope you find their research as interesting as we do! Peter Harris of Mayo Clinic and colleagues published PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation,… Read more »

Recent Customer Publications

         March 2, 2017
customer

It’s always exciting to read the latest articles our clients have published, and this month there are some unique topics. Learn more about the genomics of raccoon dogs and cattle tissue infection in some of the articles highlighted below! Holly Neibergs of Washington State University and colleagues published Identification of loci associated with susceptibility to Mycobacterium avium subspecies paratuberculosis (Map)… Read more »

Recent Customer Success

         January 31, 2017
customer

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 colleagues published Association of AHSG with alopecia and mental retardation… Read more »

Fighting Childhood Leukemia at St. Justine

         January 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 improve detection, diagnosis and treatment. One particular area of study… Read more »

Latest Customer Publications!

         December 20, 2016
customer

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 to get it done this year, and we are looking… Read more »

Case Study: Children’s Hospital Los Angeles

         December 6, 2016
Laura Li

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 and blindness in young children. ONH can also be combined… Read more »

Recent Customer Success

         November 28, 2016
customer

We hope our Golden Helix community had a delicious Thanksgiving, and several of our customers had an additional reason to celebrate because they published this month, including one book publication! The success is overwhelming and we are happy to share it with you each month: Randovan Kasarda of the Slovak University of Agriculture and colleagues published Genetic Divergence of Cattle Populations… Read more »

Recent Customer Success

         November 3, 2016
customer

We closed October with a record number of publications from our customers! Topics ranged widely from root traits in tropical maize to pretreatment depression severity. We hope you’ll enjoy reviewing some of our favorites: Bradley Aouizerat of NYU and colleagues published Human leucocyte antigen class I and II imputation in a multiracial population in the International Journal of Immunogenetics which considered… Read more »

Using GWAS to investigate neurodevelopmental disorders

         October 18, 2016
Sergey Kornilov

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 – up to 10% of preschool children. In most cases, these… Read more »