March Newsletter

New eBook Update: Clinical Variant Analysis - Second Edition 
By Andreas Scherer, PhD 

The clinical interpretation of variants in Next-Gen Sequencing is a quickly evolving field. While the body of knowledge is growing exponentially, experts have to derive sound, clinical decisions leveraging an ever-expanding set of specialty databases, clinical publications, and algorithms that are designed to predict the impact of specific variants in the resulting protein. Read More

Automating & Standardizing Your NGS Workflow

2021 Abstract Competition Winners 

We would like to thank everyone who entered our 2021 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners! First Place: Viney Gupta – All India Institute of Medical Sciences – AIIMS Digenic Inheritance in Juvenile Open-AngleGlaucoma Sign up for… Read More

Automating & Standardizing Your NGS Workflow

New Mendel Error Algorithm in VarSeq
By Darby Kammeraad
Field Application Scientist 

In many cases, VarSeq users typically run single trio projects or perhaps an extended family project. Not only are all the inheritance model algorithms available in the VarSeq software to capture de novo, dominant, or recessively inherited variants but there are a number of quality control fields to help ensure the pedigree was set up properly. The last thing any user wants to find... Read More

Automating & Standardizing Your NGS Workflow

Customizing New VSClinical Report Templates

By Jake Patek
Software Developer

Clinical testing labs produce reports as the end product of the NGS variant detection and interpretation workflow. Necessarily, the content, detail, and presentation of the report needs to be specialized to each clinical lab, and potentially each offered test. Our last blog post introduced the new Word-based report templates... Read More

Automating & Standardizing Your NGS Workflow

New Assessment Catalogs Improve Saving and Tracking Variant Interpretations

By Julia Love
Genomic Curator and Product Quality Scientist

In general, VarSeq assessment catalogs are used to save key information that is collected for variants which can ultimately be used to generate clinical reports. As variant interpretations and classifications are saved, if the variant were encountered again in another sample, the interpretation would automatically fill in saving the user time... Read More

CEO Corner
New eBook: Clinical Variant Analysis for Cancer
We continue to refine our CNV capabilities. As the field is moving to clinical exomes, the need to eliminate false-positive CNV calls early on is important. In our upcoming release, we will show significant improvements in this area. In conjunction with our tertiary filtering capabilities, a more targeted assessment of CNVs is enabled in VSClinical. This is also the main topic of our upcoming webcast on April 7th which I invite you to register for here. 
Upcoming Webcast

Exome Analysis with VS-CNV and VSClinical: Updated Strategies and Expanded Capabilities 
April 7, 2021 | 12:00 PM Eastern

In this webcast, we will review new capabilities and updated algorithms in the latest VarSeq release that will assist in any clinical exome sequencing workflow. Please join us in this webcast, as we review:

  • A new VS-CNV best-practice workflow with specialized features for calling CNVs on exomes and large panels with more precision, enhanced quality flags and additional outputs.
  • Enhanced analysis of variants found in exome sequencing, including non-coding clinically relevant RNA variants and mitochondrial variants
  • Additional CNV analysis capabilities such as CNV export and import as VCFs
  • The identification and interpretation of easily missed variants, such as those introducing novel splice-sites using the ACMG auto-classification and interpretation workflow
  • Strategies for incorporating disease-specific virtual gene panel lists into the filtering, quality and reporting capabilities of VSClinical


Customer Success

Our customers have published a number of fascinating articles throughout the month! To highlight just a couple:

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype

Fonseca, D., Morel, A., Llinas-Caballero, K., Bolivar-Salazar, D., & Laissue, P.

Serum IgG Profiling of Toddlers Reveals a Subgroup with Elevated Seropositive Antibodies to Viruses Correlating with Increased Vaccine and Autoantigen Responses

Pichilingue-Reto, P., Raj, P., Li, QZ.

Novel CARMIL2 Loss-of-function Variants are Associated with Pediatric Inflammatory Bowel Disease

Bosa, L., Batura, V., Colavito, D.

Read more about the articles published over the year on our blog!

About Golden Helix

Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.