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 also talk about other exciting features and new algorithms that... Read more » The post VarSeq 2.6.2 is Released! appeared first on The Golden Helix Blog ..read more

Compound heterozygosity describes the relationship between two alternate alleles when they are located within the same gene but at different loci within that gene. Compound heterozygosity is particularly relevant in a recessive disorder when the presence of these alleles in combination confers an increased risk of disease, similar to a traditional homozygous recessive combination of alleles. The detection of compound... Read more » The post Compound Heterozygosity Between Variant Classes appeared first on The Golden Helix Blog ..read more

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 and genome sequencing The goal of this study was to... Read more » The post How VarSeq Powers Research in Inherited Diseases and Cancer appeared first on The Golden Helix Blog ..read more

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 variant analysis tools in the upcoming VarSeq 2.6.2 release and... Read more » The post Combined Impact: New Tools in VarSeq Follow Up Blog appeared first on The Golden Helix Blog ..read more

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 analyze and evaluate this data, so we would like to... Read more » The post VarSeq Early Capabilities for Analyzing DNA Methylation appeared first on The Golden Helix Blog ..read more

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 assessing the joint impact of these in-phase variants is a... Read more » The post Collapse Phased Variants in VarSeq appeared first on The Golden Helix Blog ..read more

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 CancerKB curation team has been focused on bolstering our drug sensitivity, diagnostic, and prognostic interpretations. This project has had the team reading through the NCCN Guidelines, WHO Guidelines and International... Read more » The post Golden Helix CancerKB’s Focus on Hematological Cancer Interpretations appeared first on The Golden Helix Blog ..read more

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 pharmacogenomics pipelines with VarSeq, as it allows for inferring the... Read more » The post Sneak Peek: Force Calling Reference Alleles appeared first on The Golden Helix Blog ..read more

The following customer publications showcase the ability of VarSeq. Each study demonstrates the abilities of VarSeq’s annotation and filtering of variants and the ease of identifying with our software. Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical... Read more » The post VarSeq Annotation and Filtering Use Cases appeared first on The Golden Helix Blog ..read more

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, and how they complement each other. The theme was how... Read more » The post Webcast Q & A: Integrating Long and Short Read Sequencing for Comprehensive NGS Analysis appeared first on The Golden Helix Blog ..read more