Search Results for: Cancer

Recent Publications on Asthma, Schizophrenia, Peripheral Neuropathy, Rheumatoid Arthritis, Alzheimer Disease, and Esophageal Cancer

         February 17, 2011

As you may have guessed from the title of this post, we’ve had a lot of customers publishing in the first six weeks of 2011. We are always excited to hear about about our customers’ findings and how they were able to use SNP & Variation Suite to accelerate their research. (All abstracts below.) First, in the pharma world, congrats… Read more »

Recent Publications on Bladder Cancer, Schizophrenia, Childhood IgA Nephropathy, and Ancestry Markers

         November 5, 2010

Recognition this month begins with Eric Londin at Coriell Institute for Medical Research for his publication in PLoS ONE: “CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.” (Abstract below). Also recently published in PLoS ONE is Chiara Magri with Brescia University School of Medicine on her study locating new CNVs in schizophrenia. (Abstract below) Skipping over… Read more »

GnomAD v4 Released: Enhanced Data and Golden Helix Curation for VarSeq Users

         February 7, 2024

The Broad Institute’s release of gnomAD v4 needs no introduction as the data in this release is highly sought after by professionals in the genetics community, and the v4 release has a lot to boast about! The v4 release is roughly five times larger than the v2 and v3 releases combined and includes data from 807,162 total individuals. Naturally, exome… Read more »

Webcast Recap: VarSeq, the Complete Tertiary Platform for Short and Long-Read NGS Data

         January 18, 2024

Many thanks to those who came to view our most recent webcast, From Panels to Genomes with VarSeq: The Complete Tertiary Platform for Short and Long-Read NGS Data. This was a great opportunity for us to showcase the breadth of our workflows, from short-read to long-read, panels to genomes, singleton analysis to families. In this blog, we would like to… Read more »

VarSeq in Action: Deciphering Complex Genetic Puzzles in Immune Thrombocytopenia, Glaucoma, and Rare Syndromes

         December 31, 2023

In this blog, we explore the impactful applications of VarSeq in genetic research and diagnostics. Through case studies, we examine its role in diverse conditions like Immune Mediated Thrombocytopenia (ITP), glaucoma, and Cri du Chat syndrome. These studies demonstrate VarSeq’s capability in identifying genetic variants and influencing diagnosis and treatment across various medical scenarios, showcasing its crucial role in advancing… Read more »

Decoding Complex Genetics: VarSeq’s Pivotal Role in Melanoma and Autism Spectrum Disorder Research

         November 30, 2023

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 »

Evolution of Multi-Allelic Calls in VarSeq: Before and After Version 2.5.0

         November 9, 2023

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… Read more »

Join Us at AMP 2023 for a Deep Dive into Genomic Data Analysis with VarSeq

         November 9, 2023

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… Read more »

We are Heading to ASHG 2023!

         October 20, 2023

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…. Read more »

Emerging Insights in Medical Research: Explorations with VarSeq

         September 28, 2023

Recent advancements in medical research have been pivotal in deepening our understanding of a variety of health conditions. The utilization of tools such as VarSeq in these studies allows for comprehensive genomic analyses, thereby ensuring more accurate diagnoses and facilitating the development of targeted treatments. This bloghighlights three recent publications that have utilized VarSeq to unravel the mysteries of different… Read more »

Identifying Oncogenic Variants in VarSeq Webcast

         September 21, 2023

Traditionally genetic tests in cancer have focused on small gene panels that restrict their analysis to a small number of well-studied cancer genes. However, as sequencing costs have decreased, many clinical laboratories have embraced comprehensive genomic profiling tests that rely on whole exome and whole genome next-generation sequencing (NGS) workflows, which can detect millions of high-quality variants for a single… Read more »

Accessing Report Templates and Simple Modifications

         September 18, 2023

Your variants of interest have been identified, the SVs annotated, and the CNVs classified. Once the manifest has been imported (and here is a great blog on the subject), the last step is to bring all of this information into a report template! In this blog, we will go over some simple report modifications and provide resources for more information… Read more »

Choosing Bin Sizes for the VarSeq CNV Binned Caller

         September 14, 2023

Detecting CNVs from whole genome data has a number of advantages but also unique challenges. Whole genomes offer a comprehensive and uniform picture of the entire genome, allowing a user to capture CNVs at a higher resolution than with data sequenced at a lesser scale. It also allows for the detection of structural variation over non-coding regions and for a… Read more »

Evaluation scripts in VSPipeline: We heard you like automation…

         September 12, 2023

…so we added some automation to your automation so you can automate while you automate! Automation has been a hot topic recently and for all the right reasons. As we (proudly) watch our customers increase their sample and data volume, we are constantly seeking to provide tools to reduce click rate and optimize throughput. Furthermore, with all of the new… Read more »

VarSeq Assessment Catalogs for Beginners

         August 29, 2023

Variant interpretation is a critical aspect of any clinical NGS workflow. VarSeq assessment catalogs are a tool used to save variants and associated variant information for easy tracking and retrieval of completed variant interpretations. As variant interpretations stack up and classifications are saved, storing in assessment catalogs makes it easy to automatically fill in a previous interpretation if the variant… Read more »

Webcast Recap: Best Practices for Validating a Next-Gen Sequencing Workflow

         August 17, 2023

With the widespread adoption of next-generation sequencing for clinical and research applications comes the need for guidance and recommended standards and best practices for achieving accuracy and efficacy for each assay pipeline. The support team at Golden Helix has gotten a lot of hands-on experience in assisting users to build their bioinformatics workflows for NGS assays. We recently shared our… Read more »

Versatile NGS Exports with VSClinical’s Custom Scripts

         August 10, 2023

Configuring a bioinformatic pipeline to reliably process genomic data is no small task. Doing so in an efficient, consistent way is an even grander challenge. Luckily, the VarSeq software suite provides a comprehensive toolbox for automation and integration. One of the first questions a new VarSeq user might ask is where processed data needs to end up. The versatility of… Read more »

Advancing Precision Medicine: A Spotlight on Golden Helix’s VarSeq in Genomic Research and Clinical Applications

         August 1, 2023

The field of genomics and precision medicine is rapidly evolving, bringing forth innovative diagnostic and treatment approaches. The cutting-edge techniques and technologies discussed in the following papers provide insight into how whole-exome sequencing (WES), whole-genome sequencing (WGS), and deep computational analysis are reshaping healthcare. Our spotlight is on recent customer publications featuring the study of a unique heritable form of… Read more »

Optimizing the Capture of Tier II Evidence in VSClinical AMP

         July 18, 2023

VarSeq 2.3.0 unleashed a whole new way to select, process, analyze, and report cancer variants through complete workflow automation, application of evaluation scripts, and enhanced annotation. Single nucleotide variants, copy number variants, structural variants, and genomic signatures could be added to a single patient evaluation, and Golden Helix CancerKB came packed with new report-ready interpretations to support them! Soon after,… Read more »