NGS eSeminars

[loretta.manning]

DEC 18 - NATURE Webcast: Pioneering advances in the next generation sequencing clinical research workflow

Breaking barriers with next generation sequencing disease research panels


REGISTER: http://www.nature.com/webcasts/

This webcast will look at how implementing HaloPlex next generation sequencing target enrichment and SureCall analysis software enables fast, simple and efficient analysis of genomic regions of interest in a large number of samples.

In the first presentation, Dr. Ohgami will reveal how the technique has been used in hematolymphoid neoplasms/cancers whose diagnosis and prognosis are increasingly reliant on an understanding of their genetic profile. Testing for specific DNA mutations in certain blood cancers such as myeloid neoplasms has become routine in clinical practice. However, given the large numbers of significant genetic mutations increasingly identified in these diseases, it is also clear that a high-throughput yet tailored approach is required in order to efficiently process and utilize this important additional genetic information. Dr. Ohgami will discuss how he and his laboratory developed a targeted next-generation sequencing approach consisting of a diverse and specific panel of genes tailored towards myeloid neoplasms, as well as its practical development and implementation. Finally, he will describe how the implementation and use of this panel for clinical research will lead to a better understanding of hematolymphoid cancers.

Dr. Baskin will then discuss how she is currently in the process of introducing the HaloPlex targeted enrichment system to research many inherited diseases which are caused by mutations in multiple genes. Previously in order to be able to offer a complete testing panel for certain disease indications, up to 30 candidate genes needed to be sequenced. Currently the method of choice for targeted re-sequencing has been PCR amplification of the genes followed by Sanger sequencing. This procedure is labor intensive, expensive and time consuming, thus it is not economically feasible when many genes need to be analyzed. Dr. Baskin will show how she has set up comprehensive research panels for connective tissue disorders, Noonan spectrum disorders and cardiac disease using HaloPlex sequence capture, and how these panels can be used for high-throughput identification of mutations.

REGISTER: http://www.nature.com/webcasts/