Tag Archives: Annotation sources

Auto-Updating Template Sources

         May 21, 2020
ClinVar

In VarSeq 2.2.1, you can set template annotation sources to automatically update to the latest version. Previously, VarSeq templates were frozen in time. Now, each new project created from a template would use the same source that was used when the template was created. When you save a template, you can have the sources automatically update to the latest version…. 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 »

Clinical Variant Interpretation: Part III

         April 19, 2018
VCF file format

Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »

Upcoming Webcast: Advantages of VarSeq’s Annotation Capabilities

         August 31, 2017
genetic variants

September 13, 2017 12:00 PM, EST This month we’re branching out and covering a topic we’ve never explored before – annotation capabilities! Darby Kammeraad, Field Application Scientist at Golden Helix, will be giving us some insight into the advantages of VarSeq’s capability with annotations. The number of annotation topics to cover are seemingly limitless. In this webcast, we will focus… Read more »

Golden Helix, Inc. – Your Annotation Curation Station

         June 15, 2017

The current reduced cost and increase availability of genome sequencing has been making academics, clinicians and individuals alike excited with the possibility of increased research depth, diagnosing capability and personal curiosity. And although a freshly sequenced genome is chock-full of tasty letter snippets, the real revelation and education occurs when comparing to an annotation foundation. In this post, I’ll review… Read more »

Massive Variant Boost to ClinVar & PubMed Citation Fields

         January 24, 2017
ClinVar

It may have been easy to miss in the drum-beat of monthly annotation updates we do here at Golden Helix, but there are a couple of things that are very special about the January update to the ClinVar database: We added new fields including HGVS names of variants and citations in PubMed for variants ClinVar nearly doubled in size by… Read more »