New Annotations Product Page

         March 30, 2022

Golden Helix is always trying to add new helpful resources to aid in using Golden Helix products for NGS analysis. In today’s blog, I am very excited to introduce a new resource for Golden Helix users! A new resource that is now available is our Golden Helix Annotations product page available on the Golden Helix Learning Hub!

The goal for this page is to inform Golden Helix customers of news or updates regarding the annotations sources that we curate. Currently, the annotations product page serves a dual purpose of 1) tracking updates to popular annotation sources and 2) informing users of any known issues that exist for an annotations source.

To start, I want to first talk about the annotation page as a way to track updates to annotation sources! Several annotations are curated each month including two of our most popular annotation sources, Golden Helix CancerKB and ClinVar. Each month, these two sources see many updates and it is helpful to see these changes broken down.

Each month for the Golden Helix CancerKB annotation, there are a number of highlights that you can expect to see. These updates include but are not limited to announcing new cancer interpretations, updates to commonly reported cancer genes and their associated interpretations, or new strategies for curating interpretations.

CancerKB anottations update product page

For ClinVar, each month we report how many variants were added and removed along with how many of the added variants were classified as pathogenic.

ClinVar product annotations update page

Last but not least, I want to discuss how the annotation product page can be used as a resource to inform you of any known issues for an annotation source. All annotation sources are subjected to rigorous quality review and testing before their release. However, data curation isn’t always perfect. If an annotation source was released and an issue was discovered, we will describe the issue along with the resolution plan in the Annotations Known Issues resource. This helps users be aware of temporary limitations for a resource as annotations sources are integral to variant analysis.

gnomAD annotations product update page

The real value of the annotation product page as a resource is that the burden to review what’s new or find the most important changes, including known limitations of certain annotation sources is alleviated. The Annotation Product page is a new resource so you can certainly expect this resource to expand in the future. If you have any questions about any of the updates to ClinVar or CancerKB, or any questions about annotation known issues please reach out to our amazing customer support team at support@goldenhelix.com.

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