Andreas Scherer
Golden Helix, USA
Title: Utilizing cancer sequencing in the clinic: Best practices in variant analysis, filtering and annotation
Biography
Biography: Andreas Scherer
Abstract
This talk focuses on how to build effective cancer gene panels utilizing state of the art filtering and visualization techniques. It covers the usage of public data sources such as Cosmis and Clinvar. Also, it outlines how to best build custom databases to capture specific findings in the clinic that can be used as future annotation sources. We cover how clinically vetted workflows can be embedded in automated pipelines to increase throughput. Now as the field move beyond gene panels, what is the clinical yield of whole exome and genome sequencing in this context? What can we expect in the future? As we move beyond gene panels the chances of incidental findings increases. What are the best practices to handle those? Finally, we cover how best to structure patients reports to separate results with high degree of certainty from findings that are of uncertain clinical relevance.
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