CNV, GWAS & Clinical Analysis Advancements in SVS

Abstract

Copy number variation (CNV) can be drivers in many genetic diseases and can be called using our clinical and research application platforms: VarSeq and SVS, respectively. Using these platforms, CNV are called using the existing coverage data stored in your BAM files and are detected using a targeted or binned region approach. As the targeted approach has been demonstrated in previous webcasts, we wanted to focus on the binned region approach that is implemented for detecting CNV from shallow-coverage whole genome sequencing (WGS) data. In this webinar we will cover:

  • Providing an overview of how the binned region approach on whole genomes can be used to call large copy number events in both VarSeq and SVS
  • Additional analysis in SVS following the CNV calling steps that takes advantage of the rich research platform SVS provides
  • Other updates in the latest version of SVS to improve GWAS workflows
  • The addition of the Clinical Variant Scoring module to SVS to provide advanced variant annotations for functional predictions and conservation scores

SVS continues to be an industry-leading platform for genomic researchers studying humans as well as plant and animal species. Enoy this webcast on whole-genome CNV calling and the latest capabilities of SVS!

About the Presenter

Eli Sward, Ph.D

Eli Sward, Ph.D, Eli Sward, Ph.D is a Field Application Scientist at Golden Helix, joining the team in May of 2018. Eli graduated from Montana State University with a bachelor’s degree in Microbiology, and a doctorate’s in the Department of Immunology and Infectious Diseases. Beyond providing customer support and training at Golden Helix, Eli enjoys many outdoor activities and spending quality time with family and friends.

Gabe Rudy

Gabe Rudy, GHI’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.