Science Webinar Series

Exomes and the Clinical Research Conundrum: New Approaches to Enhancing the Value of Genomic Data

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Science  10 Oct 2014:
Vol. 346, Issue 6206, pp. 261
DOI: 10.1126/science.346.6206.261-c

Summary

Clinical research providers who investigate unknown genetic disorders have an unprecedented opportunity to gather and examine large-scale genetic information to seek the underlying variation that could potentially explain a given condition. The use of exome sequencing to inform disease characterization and treatment in the future, while not yet very widely accessible, is increasing. However, the availability of exome and genome scale data have presented the broader community with questions about reproducibility and scalability of DNA sequencing and interpretation processes, the importance of integrating relevant phenotypic information, and the ability to provide statements about “significance” in an environment where new knowledge about variants is being acquired on a daily basis.

In this webinar, our expert speakers will highlight both the opportunities and the questions that powerful NGS technologies raise, and how best to address them with new approaches that have been developed based on the needs of the clinical research community, including but not limited to the use of orthogonal platforms and focused interpretation to provide the most relevant results quickly.