The table is set, the football game is on in the background, and the family has gathered around the table when out of nowhere, your Cousin Eddie shows up for Thanksgiving dinner. While Cousin Eddie is known for eating anything, his allergies always get the best of him, ruining the evening. Thankfully, this year Cousin Eddie had recently gotten his genome sequenced with PacBio HiFi long-read technology. Let’s delve into a workflow that takes advantage of our known phenotype, and allergies, and gets us down to relevant variants of interest. Like most of our standard workflows, we are starting w ..read more

With the release of VarSeq 2.5.0, Golden Helix customers can now perform an unprecedented number of workflows within a single software suite. Carrier status analysis, multi-sample clinical workflows, and a built-in oncogenicity scorer augment the already diverse and robust set of tools encompassed by VarSeq. In addition, we have continued to improve VarSeq’s ability to handle multiple data inputs, from SNPs and indels to CNVs and SVs. Paired with improved speed and expansive tools for automation, VarSeq is better equipped than ever to handle the needs of modern clinicians working in the NGS s ..read more

As many of you may already know, we just released VarSeq version 2.5.0 this month! We have talked about the two headlining features a bunch, but we have not focused on what else has changed in VarSeq 2.5.0 that might also strike your fancy. For those of you who might just now be tuning into the hype around 2.5.0, it is worth mentioning that those two main features of VarSeq 2.5.0 are: 1) The oncogenicity scoring engine from VSClinical can now be applied to the filtering and variant prioritization of VarSeq via the Cancer Classifier algorithm. We have a webcast that deep dives into the details ..read more

We’re buzzing with excitement and couldn’t wait to share some groundbreaking news with our community: VarSeq 2.5.0 has officially landed, and it’s here to transform your NGS lab experience! What’s New with VarSeq 2.5.0? VarSeq has always been about innovation and pushing the boundaries, and the 2.5.0 update is no exception. We’ve listened to your feedback and supercharged VarSeq with new features and enhancements that make NGS data analysis more efficient, intuitive, and powerful than ever before. Enhanced Capabilities at Your Fingertips With VarSeq 2.5.0, we’re introducing a suite of enhance ..read more

It may come as a surprise to our long-standing users that the multi-allelic import and representation in VarSeq is slated to have different import options with the 2.5.0 upgrade. As the software grows and evolves, we strive to meet the changing needs of our users, and this is one area where an update was sorely needed. Before going into an overview of the changes, we wanted our long-time users to know that any project templates created pre-2.5.0 will still retain their saved variant import options, so there is no need to worry this will change your current workflows. We wanted you to keep thi ..read more

We are excited to announce that Golden Helix will be participating in AMP 2023, a pivotal event that brings together experts and innovators in the field of molecular pathology. This year, we are proud to present a session that is at the forefront of precision medicine: “Comprehensive Genomic Profiling in Oncology: Apply the AMP Guidelines for TSO-500 Variant Analysis and Clinical Reporting.” The landscape of molecular oncology is rapidly evolving, and with it, the demand for robust and dynamic tools capable of interpreting complex genomic markers is growing. Our session will focus on the capa ..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 realms of pulmonary arterial hypertension, and the peculiar case of radial hemimelia in Siamese cats, these studies underscore the power of genetic analysis in unra ..read more

Calculating Residual Risk Residual risk is the risk remaining after a negative screening test. At the core of the calculation of residual risk resides Bayes’ Theorem. This theorem is used to calculate the probability of an outcome given the probability of events required for that outcome. The probability of the required events is compounded to calculate the combined probability of the outcome. In the case of reproductive risk, we calculate the probability that a child has a disorder given the probability that the parents are carriers. With appropriate genetic screening, these probabilities can ..read more

Last month, the researchers at Google DeepMind announced the release of AlphaMissense, a new missense prediction algorithm that leverages the protein structure prediction model AlphaFold to distinguish between benign and pathogenic missense variants (Cheng et al., 2023).  AlphaFold is a model for the prediction of protein structures from amino acid sequences. During the development of AlphaMissense, the AlphaFold model was fine-tuned to identify variants commonly seen in human and primate populations. Variants predicted to be common are classified as benign, while variants predicted to b ..read more

Explore the Newest Developments in Variant Classification and Interpretation Tools at Booth 506 at ASHG 2023 Join Golden Helix at the American Society of Human Genetics (ASHG) 2023 conference and delve into the latest advancements in genetic research. This esteemed event brings together distinguished researchers, clinicians, and industry frontrunners to exchange knowledge on the most recent insights in human genetics. At Golden Helix’s booth, you’ll have the opportunity to delve deeper into our cutting-edge genetic analysis tools. Our inclusive range of software solutions features VarSeq, VS ..read more