Methods of Functional Annotation of Genetic Variants

March 24, 2020 3:00 p.m. - 4:30 p.m. ET

As part of the "Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE)" webinar series, panelists will present on methods of functional annotation of genetic variants. This webinar series is hosted by the Division of Cancer Control and Population Sciences' (DCCPS') Epidemiology and Genomics Research Program (EGRP).

The purpose of this series/forum is to provide an opportunity for the program’s grantees and other interested individuals to share lessons learned and practical information regarding the application of next-generation sequencing to cancer epidemiology studies. The past decade has seen a transformation in the genetic epidemiology of complex diseases, from linkage to association studies, which progressed from investigating single variants in candidate genes, to genome-wide approaches, including genome-wide association studies (GWAS). GWAS have successfully identified hundreds of common genetic variants associated with cancer and other complex diseases. However, with the advent of next-generation parallel DNA sequencing technologies, there is a renewed interest in examining the role of rare variants and other forms of genetic variation in complex disease etiology.


Frederick Roth, Ph.D.

Dr. Frederick "Fritz" Roth is the Canada Excellence Research Chair in Integrative Biology at the University of Toronto.

Rachel Karchin, Ph.D.

Dr. Rachel Karchin was a professor in the department of biomedical engineering at Johns Hopkins University and was the William R. Brody Faculty Scholar for the Whiting School of Engineering from 2013-2019.

Doug Fowler, Ph.D.

Dr. Doug Fowler is an associate professor of genome sciences and an adjunct associate professor of bioengineering at the University of Washington.

Jinghui Zhang, Ph.D.

Dr. Jinghui Zhang is the department of computational biology chairwoman and the St. Jude Endowed Chair in Bioinformatics at St. Jude’s Research Hospital.

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