Information on genetic variations has been used to better understand the inheritance of and susceptibility to certain diseases, response to drugs, signaling pathways involved in normal versus disease states, and more. However, biological interpretation of thousands of variants is a bottleneck in extracting valuable insights from DNA sequencing studies, often requiring months of effort after completion of the reference genome alignment and variant calling steps. These limitations can largely be overcome by using more sophisticated informatics tools that can help interpret the biology accurately and in more detail.

As an attendee you will learn:

  • How researchers are using NGS whole exome and targeted sequencing data in two case studies: one focused on urologic cancer and the other on permanent neonatal diabetes mellitus (PNDM)
  • Identify causative mutations in whole exome data from single genomes and family data sets
  • How you can use pathway analysis to discover links to known therapeutic targets...

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Meet the Speakers:

Dr. Michael L. Nickerson is an intramural research fellow in the Cancer and Inflammation Program at the National Cancer Institute. He obtained a master’s degree in biochemistry from the State University of New York at Stony Brook and a PhD in molecular medicine from the George Washington University. Dr. Nickerson has made significant contributions to the identification and characterization of disease genes.

Heather Highland is a Ph.D. candidate in the Human and Molecular Genetics program at the University of Texas Health Science Center at Houston’s Graduate School of Biomedical Sciences. She earned her B.S. in biology from Trinity University in San Antonio, Texas.


Ingenuity Systems

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