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 »
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 »
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 »
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 »
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 »
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 »
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 »
We, at Golden Helix, would like to take the time to highlight one of our long time customers on her recent success. Since the beginning of 2015, Dr. Kazima Bulayeva of the Vavilov Institute of General Genetics (VIGG), has published in 10 scientific publications including two times Nature Genetics. We are very excited to share the research she is performing using the… Read more »
With January officially in the bag, 2015 is off to a great start, especially for some of our customers who have recently published. I wanted to take a minute to share them with you. Sander van der Laan at University Medical Center Utrecht, published Variants in ALOX5, ALOX5AP and LTA4H are not associated with atherosclerotic plaque phenotypes: The Athero-Express Genomics Study which assessed the impact of common variants… Read more »
We’ve had another busy few weeks for Golden Helix customers who have been hard at work publishing in all sorts of journals on all sorts of topics. (All abstracts below.) First off, from the Cedars-Sinai Medical Center in LA, “Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome” was recently in Fertility and Sterility with… Read more »
As you may have guessed from the title of this post, we’ve had a lot of customers publishing in the first six weeks of 2011. We are always excited to hear about about our customers’ findings and how they were able to use SNP & Variation Suite to accelerate their research. (All abstracts below.) First, in the pharma world, congrats… Read more »
Happy New Year! Golden Helix customers published 92 papers in 2010 unveiling new associations and novel findings using SNP and Variation Suite – a great feat for all! We anticipate an even more “significant” 2011. Wrapping up last year, congrats to Subba Rao Indugula, Guangyun Sun, and Ranjan Deka over at the University of Cincinnati College of Medicine for their… Read more »
It’s been a busy month for the genetics community, and Golden Helix customers are no exception. First in the line up, congrats to Marta Artieda with Progenika Biopharma in Spain for her work on “Association of the Intergenic Single-Nucleotide Polymorphism rs10865331 (2p15) with Ankylosing Spondylitis in a Spanish Population” in the Journal of Rheumatology (abstract below). Next up, kudos to… Read more »
We’re inspired by significance. Every tool we develop and every service we deliver is designed to help our customers achieve significance in their research. Not only statistical, but scientific and personal significance as well. The icing on the cake is being able to share what our customers do and discover with others in the scientific community. We applaud each author… Read more »
Happy New Year! I hope you had an opportunity to relax over the holidays with your family and friends. It’s time to start talking about our plans for the New Year, but first, please allow me to review a few highlights from 2020 that helped build a foundation for our future. Growth: Golden Helix was named to the 2020 Inc… Read more »
Our previous webcast from VP Gabe Rudy in September exposed us to some fundamentals of this years’ updated Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). This recent webcast was dedicated to breaking down these new guidelines… Read more »
Thank you to everyone who joined me for our latest webcast, “Next-Gen Sequencing of the SARS-CoV-2 Virus with Golden Helix.” If you missed the live event and are interested in knowing what we talked about, you may access the recorded event below: Our Live Q&A generated a lot of great questions. Unfortunately, we were unable to answer them all, but… Read more »
Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Although CNV events are rare in the human population, constituting approximately 10% of the human genome, they are also associated with being causal mutations for disease phenotypes. Because of this, it is important for clinical and research settings to identify… Read more »
Celebrating our 20th Anniversary on September 15th, we took some time to reflect on the last two decades in this industry. Two decades of learning, adaption, and growth on the business side as well as the personal side. Employees began their careers with us, made new friends and started their own families. These past 20 years are full of stories… Read more »
Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »
