As the world is consumed by the ongoing pandemic, it is easy to forget that there are investigators all around the globe that continue to make important discoveries in human medicine. Below are a few examples that remind us there are those that persevere in their chosen fields of study despite the trying times. At Golden Helix, we continue to… Read more »
In this blog update, I’ll be walking you through some of the advanced plotting capabilities with GenomeBrowse. The strategy with any next-gen sequencing analysis is to filter down to interesting variants for either research or clinical conclusion. Golden Helix produces powerful software specifically tailored for this efficient and comprehensive search for interesting and clinically relevant variants. One additional advantage of… Read more »
VSClinical is a feature to evaluate clinically relevant variants according to the ACMG or AMP guidelines. This feature can also be used to identify if a variant has been observed previously or evaluate a manually inserted variant. Take, for example, the scenario where a colleague is interested to see if you have seen any variants associated with Bechet syndrome, which… Read more »
We have now reached the final blog of the NGS-Solutions for Clinical Variant Analysis series. Part I of this series explored the capture of variant classifications in the VSClinical environment when following the ACMG and AMP guidelines. Part II was similar in content but for the capture of clinically relevant copy number variants as well as using a CNV catalog… Read more »
The potential of genetic testing to impact a patient’s life has been greatly accelerated by the sharing of variant interpretations done by clinical labs in public repositories such as ClinVar. This is not an inevitable outcome, but the persistent work and advocacy of people like Dr. Heidi Rehm and organizations like ClinGen. We recently participated in a survey and vetting… Read more »
SVS 8.9.0 was released on August 19th and features a new GBLUP by Bin feature and a new utility to find the LD scores of markers and categorize them into bins, along with several mixed-model upgrades and many other upgrades, fixes, and polishes. The two new features LD Score Computation and Binning and Compute GBLUP Using Bins, while they can… Read more »
The detection and interpretation of Copy Number Variants (CNVs) is vital for the clinical evaluation of individuals with a wide range of disorders. Golden Helix has remained at the forefront of CNVs in Next-Gen Sequencing (NGS) data since 2016 with the release of VS-CNV, our solution that allows you to both detect and analyze CNVs directly from NGS data. Earlier… Read more »
Golden Helix has secured its reputation as a global leader in Next-Generation Sequencing solutions for over two decades. Today, we have been included in the esteemed Inc. 5000 list of rapidly growing American companies. Out of the 6 million business in the United States, Golden Helix has been honored with a spot in the annual list for the 2nd consecutive… Read more »
In this month’s Customer Publications blog post, our VarSeq software is taking center stage! From whole exome sequencing to copy number variant calling, VarSeq can be used for a range of scientific investigations. Although this blog features several examples of cancer investigations in human patients, it’s interesting to see how this platform can be utilized in a variety of investigational… Read more »
Thank you to everyone who joined our webcast, “Whole Genome Trait Association in SVS.” 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 we have compiled some of the… Read more »
Introduction: Malignant Rhabdoid tumors (MRT) are among the most aggressive and lethal forms of infant and child cancer (1). These tumors are characterized by an unusual combination of mixed cellular elements similar to but not typical of teratomas and can originate at any anatomic location. When MRTs are present in the brain, they are called atypical teratoid/rhabdoid tumors (AT/RT), which… Read more »
Abstract Before assessing the clinical significance of a somatic mutation, one must determine if the mutation is likely to be a driver mutation (i.e. a mutation that provides a selective growth advantage, thereby promoting cancer development). To aid clinicians in this process, VSClinical provides an oncogenicity scoring system, which uses a variety of metrics to classify a given somatic mutation… Read more »
In trio workflows, one of the most important factors in scoring a variant is understanding how that variant is inherited from the parents. Likewise, when looking at extended families, the segregation, or presence of the variant among the affected versus unaffected individuals provides evidence for its pathogenicity for a given phenotype or disease. Given the nature of Copy Number Variants… Read more »
VarSeq 2.2.1 was released on April 1st and features an upgraded gene annotation capability with new RefSeq genes tracks and an AMP workflow addition: the Drugs and Trials tab. The new RefSeq human genome genes tracks contain updated gene names and the recognition of any MANE (Matched Annotation from NCBI and EMBL-EBI) identified transcripts. VarSeq has been updated to be… Read more »
At Golden Helix, we want our new users to hit the ground running with VarSeq and not spend oodles of time getting started building and automating their workflows. To achieve this goal, our team has generated blogs, webcasts, and tutorials that explain and demonstrate workflows that are possible with VarSeq. Each VarSeq tutorial offers step by step instruction in which… Read more »
Our customers are making great contributions to human research and precision medicine every month! In February, VarSeq’s Clinical Suite dominated the published works citing Golden Helix. It is an honor for us to be at the forefront of so many important genetic investigations and we appreciate the efforts of those who work for the greater good. Read further to see… Read more »
Since the initial release of the copy number variant algorithms in VarSeq, our team has created a variety of content to help users get started with building their copy number variant projects. In our webcast library, you can find a few of our recent webcasts in 2019 covering CNV workflows and validation: Or, if you prefer to take a more… Read more »
Golden Helix is in a unique position to provide a secure on-premise analysis solution. This capability is based on two enablers. First, we build our software solutions from scratch and from the ground-up with the assumption that it should run on any operating system and potentially behind firewalls or even without internet access. Second, we provide these solutions on a licensing model based on training and supporting users, not… Read more »
We are incredibly grateful to be recognized as one of the Top 60 Genetics Blogs on the Web by Feedspot. Our team is dedicated to educating our readers on how our solutions can help enable precision medicine, and we are so honored to have received this recognition. On our blog, you will discover posts touching on important topics, like cyber security strategies,… Read more »
We’re packing our bags and getting ready to head out to San Diego, CA for the International Plant & Animal Genome XXVIII meeting (or PAG 2020). This is the largest ag-genomics meeting in the world, bringing together over 3,000 leading genetic scientists and researchers in plant and animal research, and over 120 exhibits, 140+ workshops, 1000+ posters, and 1700+ abstracts. We… Read more »
