Tag Archives: Algorithm

Annotate your VarSeq Projects with REVEL

         October 6, 2020

Typically, researchers are looking for rare variants in their next generation sequencing datasets. However, most of the nonsynonymous variants have unknown significance because there is an inherent difficulty in validating large numbers of rare variants or even detecting rare variants with high statistical power. In lieu of this issue, computational tools are needed as they accurately predict the pathogenicity of… Read more »

Detecting de Novo Copy Number Inheritance and Family Segregations

         April 23, 2020

In trio workflows, one of the most important factors in scoring a variant is understanding how that variant is inherited from the parents. Likewise, when looking at extended families, the segregation, or presence of the variant among the affected versus unaffected individuals provides evidence for its pathogenicity for a given phenotype or disease. Given the nature of Copy Number Variants… Read more »

Upcoming Webcast: Using Varseq Templates to Advance and Customize Variant Analysis

         March 23, 2020

Golden Helix ships a variety of templates that are designed to provide a starting point for users to evaluate variants in VarSeq. Naturally, as users become more familiar with the software, there is a desire and necessity to tailor the template design to accommodate a more thorough variant analysis. To add to these template customizations there are several algorithms and… Read more »

Powerful Cohort Analysis with VarSeq’s Count Alleles Algorithm

         February 25, 2020

Although VarSeq is intentionally designed to be a clinical NGS pipeline tool able to run a handful or even single samples through, we have many users who run large cohort style studies with the tool as well. One common use is to compare case/control data to isolate variants shared among affected individuals and exclude those in unaffected. One incredibly powerful… Read more »