Clinical Genetics

Understanding Cornelia de Lange Syndrome: The Role of Genomics in Finding Answers

May 7, 2026

On International CdLS Awareness Day, we recognize the individuals and families affected by Cornelia de Lange Syndrome (CdLS), a rare developmental condition that highlights both the complexity of human genetics and the importance of accurate, timely diagnosis. CdLS is a genetic disorder typically caused by de novo mutations, meaning the…

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Brain Tumor Awareness Month

May 5, 2026

This May, we’re recognizing #GrayMay, a month dedicated to raising awareness about brain tumors. In this blog post, I want to share something practical regarding precision medicine of gliomas: for gliomas, the diagnosis is no longer based on histology alone. Molecular profiling now helps define the tumor entity, clarify prognosis,…

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April 2026 Customer Publications

Apr 30, 2026

April’s customer publications with clinical genomic insights across healthy aging genes in Super Seniors, chronic kidney disease, and breast cancer risk stratification. Each month, we highlight new research from the scientific community that advances our understanding of complex genetic diseases and showcases the tools researchers rely on for precise variant…

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March 2026 Customer Publications

Mar 26, 2026

March’s Clinical Genomic Insights Across immunodeficiency syndromes, oculocutaneous albinism, and ocular genetics Each month, we highlight new research from the scientific community that advances our understanding of complex genetic diseases and showcases the tools researchers rely on for precise variant interpretation. Our customer publications in March explored immunodeficiency syndromes, oculocutaneous…

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How VarSeq Supports Inherited Trait Discovery & Carrier Screening

Nov 28, 2025

As we gather around the table this season, many of us reflect on family and where we come from, what connects us, and what we pass on. In the field of genetics, these same concepts are explored through the study of inheritance and carrier screening. NGS analysis software such as…

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Golden Helix Launches Enterprise Genomic Analysis with VarSeq 3 and VSWarehouse 3

May 22, 2025

Today, we announced the release of VarSeq 3 and VSWarehouse 3, marking a major milestone in enterprise-scale secondary and tertiary genomic analysis. The release introduces cloud-native deployment options optimized for AWS and Azure, expanded support for hybrid and on-premise support, flexible licensing models, including per-sample packaging tailored to small and…

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Automating Carrier Screening Analysis Using VarSeq

May 8, 2025

VarSeq, when used with VSPipeline, automates carrier screening analysis, allowing labs to run them in a parallelized, economical fashion.

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VarSeq for Rare Disease Analysis

Apr 8, 2025

Streamline rare and undiagnosed disease analysis with VarSeq—NGS software designed to simplify variant interpretation and diagnosis insights.

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Exploring Publicly Available NGS Data Sources

Oct 31, 2024

Publicly available datasets play a crucial role in research and offer resources for validation and benchmarking of workflows. In this blog, I would like to point out and briefly discuss several notable, publicly available sources of NGS data analysis inputs — publicly available NGS sequencing datasets that researchers and labs…

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The Power of Phased Genotypes in Variant Analysis

Aug 20, 2024

Phased genotypes provide crucial information that allows us to separate variants into distinct haplotypes, representing the sequence of alleles inherited together from a single parent. This information can offer profound insights into inheritance patterns, the combined functional effects of variants, and the identification of specific genetic profiles such as pharmacogenomic…

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CNV Specific Updates to VarSeq 2.6.0

May 6, 2024

The recent release of VarSeq 2.6.0 was filled with so many customer-requested features (for example, our long-awaited PGx workflow!) that some of our other new features have not yet had their time in the spotlight. For this blog, we are thrilled to announce that with the release of VarSeq 2.6.0,…

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Computed Fields in VarSeq: The Ultimate Customization Tool

Apr 2, 2024

Bioinformatic freedom is core to the user experience with Golden Helix software, a topic with which you will be well-versed if you’ve kept up on our recent blogs. We are constantly endeavoring to provide our users with powerful tools to tackle complex and impactful next-generation sequencing (NGS) workflows while maintaining…

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Using Liftover to Curate GnomAD v4 for GRCh37

Jan 25, 2024

We are excited to announce the release of our gnomAD v4 annotation tracks for VarSeq. This version of the GnomAD database represents a significant leap forward, including data from an impressive cohort of over 800,000 individuals — a remarkable 5x expansion compared to the previous releases. Notably, this dataset is…

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

Nov 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…

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Evaluating DeepMind’s AlphaMissense Classifier

Oct 20, 2023

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…

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Using Compute Functions to Validate Variant Assessments

Sep 26, 2023

Recently, a Golden Helix customer reached out to support for advice on how to validate the variant scoring between two different VarSeq users. Here we break down one possible solution as an opportunity to showcase the utility of both the Latest Sample Assessment function and an alternative way to leverage…

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Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer

Jul 25, 2023

While the analysis of gene fusions is crucial for understanding the genetic basis of cancer, the process of interpreting these mutations can be challenging. One important component of fusion interpretation is the identification of relevant publications. To aid researchers in the search for publications related to specific gene fusions, Felix…

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Optimizing the Capture of Tier II Evidence in VSClinical AMP

Jul 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…

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When Negative Findings are a Good Thing to Report: Leveraging VarSeq’s VSClinical AMP

May 25, 2023

Explore the importance of negative findings in genomic medicine through the lens of VarSeq’s VSClinical AMP. When analyzing a somatic sample in VarSeq, users have the option to report on several types of biomarkers with VSClinical AMP, which guides clinicians through structured variant classification for each finding. In addition to…

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Transitioning to Broad-Scale Genomics: From Gene Panels to Whole Genome Sequencing

May 16, 2023

Explore the evolving landscape of genomic analysis, transitioning from targeted gene panels to whole genome sequencing. A recent trend with our customers has been to expand their workflows from small panel sequencing analyses to larger whole exome and genome sequencing analyses. The decreasing cost of sequencing has made this a…

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