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 »
Experience the journey of revolutionizing precision medicine at Golden Helix – my personal account of working with an innovative and impactful company. Ever since becoming a member of Golden Helix’s team, I have relished the opportunity to contribute to the company’s mission of revolutionizing genomic medicine. Since 1998, this company has been at the forefront of advancing precision medicine and… Read more »
Happy New Year! I hope that you all were able to enjoy quality time with your loved ones over the holidays. Now that 2022 has come to a close, we would like to take the time to say thank you while looking back on a big year full of new experiences and accomplishments. During the pandemic, we’ve been using the… Read more »
Here at Golden Helix, we would like to take a moment and highlight some of our amazing and talented women in STEM! Below are short excerpts from some of our own Golden Helix employees and their experiences both in STEM and here at Golden Helix. Rana Smalling Field Application Scientist B.S. in Biological Sciences, Ph.D. in Biochemistry My experience in STEM started in… Read more »
Everyone at Golden Helix is excited to be traveling once again to an eventful week in Nashville, Tennessee, for ACMG 2022! If you are attending the conference, we hope you will stop by our booth and say hello to the team: Andreas Scherer, Ph.D., Darby Kammeraad, Jennifer Dankoff, and myself, Casey Fullem. We are all excited to be having the… Read more »
In this blog post, I am very excited to talk about The Broad Institute’s release of the latest version of gnomAD, v 3.1.2, which is now available for use as an annotation source in your SVS or VarSeq projects. For VarSeq users, I also want to point out that gnomAD v3.1.2 can also be used as a population frequency in… Read more »
Happy New Year to all! I hope that you were able to enjoy quality time over the holidays with family and friends. It is time to begin discussing our plans for the new year again, but I would first like to review a few highlights from 2021 that laid the foundation for Golden Helix’s future. Golden Helix had a resoundingly… 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 »
In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different criteria which are arranged into five distinct sections. These extensive… Read more »
The customer-published articles this October cite the range of Golden Helix’s VarSeq annotation range and capability. The following publications feature everything from annotating an Italian nobleman mummy, assisting in identifying mutations in primary congenital and juvenile glaucoma, new mutations associated with muscular dystrophinopathy, and germline variants associated with head and neck cancer. In each of these cases, VarSeq was utilized… Read more »
September’s published articles citing Golden Helix software serve as a testament to our product’s broad applications and utility in NGS data analysis. We are always proud of our customers and the contributions they make to advancing scientific discovery and are grateful to be included in their research. This month, we were treated to publications from all over the globe showing… Read more »
For the third year in a row, Golden Helix has been included on the Inc 5000 List. Without our amazing customers and partners, this award would not have been possible. We all know that the world is seeing significant increases in daily expenses. Our company has been able to absorb these increases by expanding its market share around the world. We… Read more »
Golden Helix VSClinical provides a guided workflow interface for following the ACMG and AMP guidelines to evaluate variants and CNVs for NGS tests. The output of this work is most often a lab-specific clinical report. Since it was introduced, we have provided a powerful Word-based templating system to allow labs the ability to generate customized reports to include specific content… Read more »
We would like to thank everyone who participated in our 2021 t-shirt design competition. It was great to see the amount of creativity our community expressed and was certainly a tough decision to make! We are pleased to announce this year’s winners: First Place – Bruce Eng For over 35 years, Bruce Eng has partnered with businesses, educational institutions, and… Read more »
Welcome to the August edition of our customer publications blog post! Each month we spotlight a few recently published articles by our incredible Golden Helix customers. With users spanning both research and clinical spaces, the topics vary widely across many fields. This month, we will be highlighting VSClinical users and the guided workflow. Host Genetics and Antiviral Immune Responses in… Read more »
Join the Golden Helix team at this year’s ESHG 2021 Virtual Conference! We will be presenting two different talks on our different product solutions and fielding any questions you might have. VSClinical: a comprehensive NGS clinical solution The first talk, VSClinical: a comprehensive NGS clinical solution, will be on Sun, 29 August, 14:00-15:00. This will be moderated by Golden Helix… Read more »
In this month’s Customer Publication blog, I will highlight four studies that provided further insights into conditions that are typically identified in early childhood. As you will see as you read the summaries of each publication, both Golden Helix software platforms (VarSeq and SNP & Variation Suite or SVS for short) were instrumental in exploring the genetic factors that influence… Read more »
We are honored to be selected as MirrorReview’s 10 Innovative Biotechnology Solution Companies for 2021. This award would not be possible without the incredible support from our customers and partners. Thank you to our entire community! If you are interested in reading our story, and why we were selected for this award, you can access the publication here: https://www.mirrorreview.com/golden-helix-pioneering-bioinformatics-solutions/. “Biotechnology… Read more »
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects (1). We have covered this annotation in-depth in other blog posts, but this resource contains over 125,000 exome sequences and around 16,000 whole genome… Read more »
Could leveraging CNV analysis for whole exome or genome sequencing help provide answers for the undiagnosed? Roughly 4% of the world’s population shares one common desire – a diagnosis (1). Though it may seem counterintuitive, a diagnosis, no matter how grim, can provide relief, validation, the chance to make plans, and have a discernible sense of future for individuals and… Read more »
