In the rapidly evolving field of genomics, innovative technologies, and methodologies are constantly being developed to enhance our understanding and diagnosis of genetic disorders. Golden Helix’s VarSeq and VS-CNV software platforms stand at the forefront of this revolution, offering powerful tools for genetic data analysis and interpretation. This blog highlights recent research endeavors where these tools have been instrumental. From… Read more »
Welcome to the exploration of groundbreaking genetic research in ophthalmology. Recent studies have unveiled fascinating insights into the complex interplay between genetics and eye diseases, offering hope and new directions for understanding and treating these conditions. From novel genetic variants linked to microphthalmia and glaucoma to the long-term implications of cataract surgery in childhood, we’re diving into the depths of… Read more »
In the rapidly evolving field of genetic research, VarSeq software by Golden Helix stands out as a powerful tool for genetic analysis and interpretation. This is exemplified in two significant customer publications that demonstrate the versatility and impact of VarSeq in advancing our understanding of complex genetic disorders. Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients Increased genetic… Read more »
In the ever-evolving field of genetics, the quest to understand the intricate dance between genetic predispositions and disease manifestations continues to gain momentum. The three research papers presented here offer a glimpse into this complex interplay, each exploring the genetic underpinnings of distinct medical conditions across species. From the debilitating effects of acute retinal necrosis in humans to the life-threatening… Read more »
At Golden Helix, our community of customers and researchers is at the core of our commitment to advancing genomic research and precision medicine. We are thrilled to highlight some recent customer publications that have made innovative use of our VarSeq software in their research. These studies, which span across diverse fields including cardiology and oncology, illustrate the versatile applications of… Read more »
Welcome to our latest roundup of inspiring stories from the field of genomics. We are thrilled to highlight the groundbreaking work of our customers who have been utilizing Golden Helix’s VarSeq software in their scientific endeavors. VarSeq, our innovative software solution for analyzing and visualizing variant data, has enabled researchers to push the boundaries of genetic analysis. Below are three… Read more »
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 »
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 »
We are thrilled to announce that our company has been named the Best Global Bioinformatics Firm of 2023 by the Corporate Excellence Awards. This recognition is a testament to the hard work and dedication of our team, who are committed to delivering the highest quality bioinformatics solutions to our customers. At Golden Helix, we have always been committed to innovation… 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 »
We would like to thank everyone who entered our 2022 Innovation Awards Competition. It is always a pleasure to read and learn about the various ways Golden Helix software is applied around the world as well as the amazing research that is being done. With that said, it is our pleasure to announce this year’s winners! First Place: Ammar Husami… 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 »
