Golden Helix Blog

Golden Helix CancerKB 4.0 is Officially Released!

Nov 19, 2024

Just in time for the holidays, Golden Helix CancerKB 4.0 is now available to incorporate into your cancer analysis workflows! We have termed this release “The Hematological release” as we boast of complete coverage of the NCCN Guidelines recommended therapies and FDA-approved therapies for all hematological cancers in our Drug…

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Don’t Miss MITOMAP for Mitochondrial Variant Analysis in VarSeq

Nov 12, 2024

Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), represent a complex and diverse group of disorders. These conditions often affect organs with high-energy demands, such as the brain, heart, and muscles. Identifying mitochondrial DNA variants and understanding their clinical relevance is essential for diagnosing and treating these diseases. One…

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Golden Helix at AMP 2024: Advancing Precision Oncology and NGS Analysis

Nov 12, 2024

Golden Helix is excited to announce our attendance at AMP 2024 in Vancouver, British Columbia, from November 21 to 23. Visit booth #1511 to discover how our latest advancements in cancer capabilities, automation, and clinical diagnostics can transform your genomic workflows and precision medicine applications. Live Demos: Experience the Latest…

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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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Golden Helix at ASHG 2024: Come Say Hi and Check Out Our Latest Innovations!

Oct 29, 2024

Guess what, Golden Helix users and interested parties? We will be front and center at the ASHG 2024 Annual Meeting in Denver, Colorado, from November 6-8—and we’ve got a ton to share with you. If you’re attending, make sure you swing by booth #959 because we’re bringing some great new…

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Showcasing VarSeq: Empowering Groundbreaking Genetic Research

Oct 29, 2024

Our VarSeq software continues to support cutting-edge research, enabling scientists worldwide to explore the depths of genetic variants with precision and accuracy. In this blog, we highlight recent publications that leveraged VarSeq for impactful discoveries in pharmacogenomics and familial cancer studies, showcasing the vital role of our tools in advancing…

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Efficient Quality Control tools for an automated VarSeq pipeline

Oct 29, 2024

Optimizing sample throughput while maintaining quality control is, arguably, the crux of any profitable lab performing a high volume of analysis. We’ve discussed in great detail the flexibility of VSPipeline, our command line automation tool, as well as our full-stack FASTQ to report automation capabilities, and today I’d like to…

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GnomAD 4.1 Released: Improved Allele Frequency Data for VarSeq Users

Oct 22, 2024

We’re excited to announce the release of gnomAD 4.1 variant frequencies as an annotation track in VarSeq. This latest release addresses key issues from previous versions and introduces joint variant frequencies curated directly from gnomAD. Additionally, we’ve refined our liftover process, offering more accurate GRCh37 tracks. By incorporating this data…

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Flexible Biomarker Reporting Capabilities with VarSeq: Somatic Interpretation Made Easy!

Oct 15, 2024

Reporting on Cancer Biomarkers may seem like a daunting task, both in determining the scope of what a biomarker can encompass and which information to include. Biomarkers can come in the form of small variants (SNPs and INDELs), copy number variants, and structural variants. Biomarkers can also be sourced from…

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VarSeq 2.6.2 is Released!

Oct 8, 2024

I am pleased to announce that VarSeq 2.6.2 is now available! VarSeq 2.6.2 comes jammed-packed with new features and capabilities to advance your NGS analysis workflows. In this blog, I will describe the major changes to the VSPGx workflow, which were the main focus of the release, and I will…

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Compound Heterozygosity: Definition, Examples, and Clinical Significance

Oct 4, 2024

Compound heterozygosity is one of the most clinically important, and most frequently missed, mechanisms behind recessive genetic disease. Understanding it is essential for anyone interpreting genomic data, from clinical lab scientists to genetic counselors. What Is Compound Heterozygosity? Compound heterozygosity occurs when an individual carries two different pathogenic variants in…

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How VarSeq Powers Research in Inherited Diseases and Cancer

Sep 25, 2024

Exome and genome sequencing have advanced genetic research, but data analysis remains complex. VarSeq simplifies this by helping researchers identify key genetic changes in rare diseases and cancer, improving screening and diagnosis. Here are recent customer publications that highlight VarSeq usage. Expanded carrier screening for inherited genetic disease using exome…

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Combined Impact: New Tools in VarSeq Follow Up Blog

Sep 19, 2024

Thank you to all our audience members who attended our recent webcast, Combined Impact: New Tools to Assess Complex and Compound Heterozygous Variants with VarSeq. If you would like to view the webcast, follow the link above! As the title suggests, this webcast was all about breaking down the new…

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VarSeq Early Capabilities for Analyzing DNA Methylation

Sep 12, 2024

DNA methylation is becoming more relevant as a clinically important biomarker, and long-read pipelines are making it easy to get this information in the same sequencing run as small variants and larger structural variants. Even though there are no official guidelines for addressing DNA methylation, it is still useful to…

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Collapse Phased Variants in VarSeq

Sep 12, 2024

In a recent blog post, we explored how phased genotypes provide crucial insights by separating variants into distinct haplotypes—groups of alleles inherited together from a single parent. We also discussed how the combined impact of multiple variants within the same gene can significantly differ from their individual effects. However, accurately…

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Golden Helix CancerKB’s Focus on Hematological Cancer Interpretations

Sep 6, 2024

You might have noticed an uptick in the number of interpretations associated with hematological cancers within the Golden Helix CancerKB database over the past several months. This is because the Golden Helix CancerKB curation team has been focused on bolstering our drug sensitivity, diagnostic, and prognostic interpretations. This project has…

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Sneak Peek: Force Calling Reference Alleles

Sep 3, 2024

In the upcoming release of VarSeq 2.6.2, we have added the ability to force call reference alleles using the BAM files associated with the sample. This feature extends the current force call functionality, which allows filling in reference alleles from GVCFs. This is an important option to enable when running…

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VarSeq Annotation and Filtering Use Cases

Sep 3, 2024

The following customer publications showcase the ability of VarSeq. Each study highlights how VarSeq simplifies variant annotation, filtering, and interpretation, supporting efficient NGS workflows in both clinical and research settings. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)…

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Webcast Q & A: Integrating Long and Short Read Sequencing for Comprehensive NGS Analysis

Aug 22, 2024

Our webcast on Integrating Long and Short Read Sequencing for Comprehensive NGS Analysis was a timely review of a topic. We discussed how users are leveraging both short and long-read sequencing modalities for comprehensive NGS analyses, reviewing the differences between long and short-read sequencing, the benefits and limitations of each modality,…

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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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