Using Public Access Clinical Databases to Interpret NGS Variants

Date: February 19, 2014

Presenter: Gabe Rudy, Vice President of Product Development

Duration: 62 Minutes


Using Public Access Clinical Databases to Interpret NGS Variants


On February 4th, Dr. Christensen covered some of the public data source options for samples used in large scale studies. But what is the state of public repositories used to annotate and interpret individual variations, both in translational research and clinical settings?

In this webcast on February 19th, Gabe Rudy, Vice President of Product Development, will showcase publicly available databases and resources available for interpreting rare and novel mutations in the context of his own personal exome obtained through a limited 23andMe pilot in 2012.

The last couple years have seen many changes in well-established resources such as OMIM and dbSNP, while motivating new efforts such as ClinVar and PhenoDB to bring NGS interpretation to clinical grade through a global data sharing effort.

In this webcast, Gabe will cover:

  • The changing landscape of public annotations: Then, Now, and Soon.
  • Will the new human reference (GRCh38) released in December be a game changer?
  • Specific examples of improvements in annotation and algorithms that result in more accurate analysis of his own exome.
  • The utility and progress of NGS to different clinical applications in terms of public resources: carrier screening, hereditary cancer risk, pharmacogenomics, oncology care, and genetic disorder diagnosis.
  • Sharing of new clinical data: How both variation and phenotype level data is currently being shared and what will be the way forward to match rare and undiagnosed cases at a global scale.

About the Presenter

Gabe Rudy

Gabe Rudy Meet 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. Follow Gabe on Twitter @gabeinformatics.