Using the GRCh38 reference assembly for clinical interpretation in VSClinical

Abstract

Although the latest reference genome (build 38) was released in 2009, it has taken quite a while to come into its own as a baseline for the clinical interpretation of variants in human disease. A lot of this was momentum, while some of it was concerns about compatibility with other labs and published literature. Yet the largest hindrance was the lack of support of the bioinformatic tools and requisite databases required to analyze variants. When we released VSClinical, we wanted those concerns to be removed from the choice of what reference genome a lab may choose to use.  

In this webcast, we will:

  • Review the cost and benefits of using the new GRCh38 reference genome in the context of clinical genetics.
  • Look at the public data resources that have native support, and Golden Helix’s effort to lift over the ones that do not.
  • Provide examples of situations where changing reference genomes introduces or negates artifacts caused by errors in the reference sequence.
  • Demonstrate VarSeq’s new ability to lift over to the new reference genome while importing your VCFs into a project.
  • Go through VSClinical using the new human reference genome, with full annotation support and downstream use of assessment catalogs and writing of reports.

Whether you have already made the switch or considering the possibility, this webcast will provide you with what you need to know about using the new reference genome for clinical genetic testing as well as human disease research using VarSeq. We hope to see you there!

About the Presenter

Gabe Rudy

Gabe Rudy is Golden Helix's Vice President of Product and Engineering and team member since 2002. Gabe thrives in the dynamic and fast-changing field of bioinformatics and genetic analysis. Leading a killer team of Computer Scientists and Statisticians in building powerful products and providing world-class support, Gabe puts his passion into enabling Golden Helix's customers to accelerate their research. When not reading or blogging, Gabe enjoys the outdoor Montana lifestyle. But most importantly, Gabe truly loves spending time with his sons, daughter, and wife.