From Data to Discovery: Tools to identify the pathogenic structural variant in patients with genetic disease

Children's National Medical Center
Dr. Hayk Barseghyan | July 29, 2020

You have a lot of great genomics data – so, what’s next?

In this webinar, we will explore tools and methods to analyze structural variation and demonstrate how to cut through the noise.

Genome imaging with Bionano’s Saphyr generates high quality structural variation calls for less than $500 per sample, with up to 99% sensitivity and with the lowest false positives. But getting great quality SV calls is only the first step. Dr. Hayk Barseghyan, Assistant Professor and researcher at Children’s National Medical Center, is arguably Bionano’s most experienced human genetics researcher, having analyzed hundreds of genomes of patients with a variety of undiagnosed genetic disorders and their parents. In this webinar, he will demonstrate how to filter thousands of structural variants down to the likely pathogenic ones, using three different tool sets:

  • Bionano’s own Access Software, and its Variant Annotation Pipeline
  • NanotatoR, open-source software for the annotation of structural variants developed by his team at Children’s National
  • The Genoox integrated pipeline, subscription software capable of integrating NGS reads with Bionano SV calls, which uses AI to annotate and classify point mutations and SVs