December Newsletter
Featured in The Journal of Precision Medicine: Golden Helix’s Recent Release for a New Workflow for Interpretating and Reporting Copy Number Variants in Concordance with the Recently Updated ACMG Guidelines

Featured in The Journal of Precision Medicine: Golden Helix’s New Workflow for Copy Number Variants in Concordance with the Updated ACMG Guidelines
By Delaina Hawkins 
Director of Marketing & Operations

Last week, our team released VarSeq 2.2.2 loaded with a number of updates and VSClinical’s highly-anticipated ACMG-CNV Guideline workflow! We have spent the past several months sharing webcasts and blogs on this new capability. We are honored to also have this new solution recognized in The Journal of Precision Medicine’s December 2020 issue...

Read More

Exploring New Features and Clinical Reports in the ACMG Guideline Workflow

Exploring New Features and Clinical Reports in the ACMG Guideline Workflow
By Julia Love
Field Application Scientist

In the recent webcast “Exploring New Features and Clinical Reports in the ACMG Guideline Workflow”, Gabe and I took viewers through an evaluation with CNVs and SNVs according to the ACMG Guidelines where we generated and customized a clinical report...

Read More

Adding Population Catalogs to VSClinical

Adding Population Catalogs to VSClinical
By Eli Sward, Ph.D
Field Application Scientist Manager

Our previous webcast demonstrated some of the new functionalities of VSClinical, including the ability to add ACMG frequency sources for the ACMG BA1, BS1, and PM2 criteria. This new feature was spurred by the feedback from our users, which requested supporting frequency tracks other than gnomAD Exomes and 1kG Phase3...

Read More

Need Coverage Statistics? VarSeq Has You Covered!

Need Coverage Statistics? VarSeq Has You Covered!
By Julia Love
Field Application Scientist

Curious about how coverage statistics can be used in conjunction with VarSeq? Evaluating the coverage over target regions or whole genomes is essential whether you are working with variant or CNV analysis. VarSeq has had the capability to compute sample level coverage statistics for some time now but in the 2.2.2 release of VarSeq...

Read More

CEO Corner
Andreas Scherer, PhD
Amidst the global pandemic and respective highs and lows this year has brought, 2020 has been an exceptional year for our organization highlighted by the recent launch of our VSClinical ACMG CNV workflow and being named to the 2020 Inc. 500 list of fastest-growing private companies for our second consecutive year. We are preparing for our organization's goals for the new year which I look forward to sharing with everyone on our blog in January. As always, thank you for your continued support and partnership this year. Our team sends everyone best wishes for a happy holiday season and a new year filled with health, happiness, and spectacular success. Cheers!
Upcoming Webcast

VSClinical: a complete clinical workflow solution
January 13, 2021 | 12:00 PM EST

VSClinical is a single testing paradigm that consolidates and automates the tertiary analysis workflow. With this software, users can perform variant and sample QC, create a variant evaluation using a plethora of public and licensed annotation sources and evaluate variants with the automated ACMG and AMP guidelines for SNVs, Indels, and CNVs. All this information can then be used to create a clinical report with our new word-based report templates. In this webcast, we plan to demonstrate the full clinical analysis workflow within VSClinical...

Register
Customer Publications

Congratulations to all of our customers who have published this month! To highlight just a few:

"Mutation in the exocyst component EXOC2 cause severe defects in human brain development" 

"Genetic Screening of Patients with Primary Immunodeficiency by Whole-Exome Sequencing"

"A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity"

Read the full list of featured articles published this month 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.