Utilizing cancer sequencing in the clinic: Best practices in variant analysis, filtering and annotation

Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Utilizing cancer sequencing in the clinic: Best practices in variant analysis, filtering and annotation

3rd International Conference on Genomics & Pharmacogenomics

September 21-23, 2015 San Antonio, USA

Andreas Scherer

Golden Helix, USA

Keynote: J Mol Genet Med

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.

Biography :

Andreas Scherer is CEO and President of Golden Helix, a leading software company empowering high-end genetic analytics. He has managed global software and services businesses working for companies such as Netscape and AOL as well as privately held companies. As part of his academic work, he has developed algorithms to conduct DNA sequence analysis. He is Author and Co-Author of over 20 international publications and has written books on project management, the internet and artificial intelligence. His latest book, “Be Fast or Be Gone” is a Prize Winner in the 2012 Eric Hoffer Book Awards.


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