These customer publications highlight our platform’s versatility in transforming NGS analysis for Late-Onset Pompe Disease and Developmental Dyslexia, leading to breakthroughs in comprehending complex genetic disorders and enabling novel treatment avenues. The versatility of our VarSeq platform is in full bloom this spring! Below are two examples of the scalability of our software as well as the complex analysis that… Read more »
Explore how Golden Helix products aid groundbreaking studies on orofacial clefts and achromatopsia, showcasing their versatility and enhancing our understanding of these rare conditions. We are always humbled and thrilled to learn how Golden Helix products are being used in the arena of human genetic testing. This month is no exception, as we showcase two very interesting studies. In the… Read more »
Recent publications have highlighted how Golden Helix’s VarSeq suite of products is enabling researchers and clinicians to conduct complex whole exome sequencing studies, once considered ‘out of reach,’ with ease and precision, resulting in the discovery of new biomarkers and personalized treatment options. It is always with pride that we feature recent publications citing Golden Helix software; this month is… Read more »
This month we are thrilled once again to highlight two publications in which VarSeq plays an important role in the genetic testing pipeline. The continuing advances in Next Generation Sequencing (NGS) are assisting researchers and clinicians in gaining a deeper understanding of complex human syndromes, often referred to as congenital regulopathies. In this first study, genetic variants were discovered that… Read more »
Golden Helix provides extensive resources to help our users who are just getting started and address any issues they may encounter as they become more familiar with our software. Our resources are constantly updated and are tailored to the needs of our users. If you’re facing a problem, it’s likely that others have encountered it as well, and we’ve included… Read more »
Researchers and clinicians alike utilize our software to progress diagnostic capabilities across the globe. Our tools are continuously validated, and below is a showcase of a few articles this month that demonstrate the range of uses. This is our final customer publications blog of 2022; I would like to say thank you to all of our current partners and customers,… Read more »
We at Golden Helix love seeing our software and solutions out in action. Whether it is to find a clinical solution or to assist in academic research, seeing YOU use our tools to the best of their ability gets us excited to continue developing industry-leading software. For the 2023 Innovation Awards, we would like to see all the creative and… Read more »
This November’s published articles citing Golden Helix software serve as a testament to our broad application and utility in NGS data analysis. We are always proud of our customers and the contributions they make to scientific discovery. Their continued work and research are motivators for us to continue delivering the best products we can. This month we are featuring two… Read more »
The month of VarSeq must be October. This month we saw incredible research and clinical application being utilized with the VarSeq suite. Whole exome sequencing and variant filtering and annotation, CNV calling for oncology research, and pathogenicity classification using the ACMG guidelines. VarSeq was able to be a front-runner this month, showing the full range of capabilities. Germline RB1 Mutation… Read more »
Every month we compile customer publications that reference us, and every time I am excited to see the amazing work being done around the world. From pediatric heart conditions to rare diseases, or a Thai clinical study on dilated cardiomyopathy, it is always a pleasure to see the Golden Helix Software suite helping research and clinical genetics. Below are a… Read more »
This past month has produced some very interesting and diverse publications, all of which are using the VarSeq suite of products for whole exome & whole genome sequencing strategies. This month had it all: investigations of an understudied population in pharmacogenomic testing, the first-ever find with implications for Maine coon cats, and a puzzling case with a unique family displaying… Read more »
July brought about several customers having success with utilizing our VarSeq software. We saw publicized research regarding Axenfield-Reiger syndrome, Septo-Optic Dysplasia, and association of TGFBI variants. This range of customer usage displays the vast capabilities of VarSeq and the applications it can work with. Axenfeld-Rieger syndrome: more than meets the eye Background: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment… Read more »
Below is a list of highlighted peer-reviewed publications from this month. The Golden Helix team consistently enjoys seeing our software applications hard at work in the field, whether it is clinical whole-exome sequencing, targeted CNV identification, or genotype-phenotype correlations. Enjoy reading below how our suite of VarSeq, VSClinical, and VS-CNV continues to contribute to the progression of genetics research. Looking… Read more »
As we look back on May, I wanted to highlight a range of applications that our VarSeq suite is capable of and show the success of our partners. In these publications, our VarSeq suite is utilized for the analysis of whole-exome, clinical variant classification and association, and assisting in an NGS panel for clinical oncology use. VarSeq’s range and capability… Read more »
For this month’s Customer Success blog, I decided to revisit some of my favorite studies that had previously been featured in years past. At the time we first highlighted the below publications, some of them were in pre-print and have since been accepted and published. What they all have in common is the implementation of our VSClinical software, which saved… Read more »
We at Golden Helix thoroughly enjoy seeing our software being utilized to solve problems and assist in the diagnosis of hereditary diseases. It is gratifying to be notified of customer publications in which they are doing precisely this. While there have been numerous publications this month showcasing Golden Helix software being applied, below are a few that stuck out specifically…. Read more »
VarSeq software again takes center stage in our recent publications for February. It is our great honor to be a part of the groundbreaking discoveries highlighted below as well as the many others too numerous to include in this blog post! We are happy to contribute to scientific findings from all our analysis platforms, but we are especially proud of… Read more »
2022 has started off with a significant number of customers publishing their research. We saw several customers utilizing various softwares within our suite, but the most prominent being VarSeq. VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and perform variant analysis for gene panels, exomes, and whole genomes. Understanding genomic data… Read more »
The articles we saw this November and December cited a wide range of applications of our product suite. The following publications feature usage of our SNP & Variation Suite, VSClinical, and VarSeq products. We see them being utilized to identify loci associated with facial eczema in New Zealand sheep, somatic mutation response impact, and assisting in estimating breast cancer risk… Read more »
We at Golden Helix love seeing our software and solutions out in action. Whether it is to find a clinical solution or to assist in academic research, seeing YOU use our tools to the best of their ability gets us excited to continue developing industry-leading software. For the 2022 Innovation Awards we would like to see all the creative and… Read more »
