At the Heart of the Genome
Subtitle: Rare Genetic Variation, Cardiovascular Disease, and Therapy
Contributors: Seidman, J G.; Seidman, Christine E.; Daly, Mark; Warman, Matthew; Huggins, Gordon; Michel, Thomas
Published: 2014
Language: eng
Description: Studies of large families with inherited single gene disorders identified a role of rare genetic variation as a cause of disease and enabled gene-based diagnosis. The increasing availability of population-scale genomic sequencing implies the potential to extend gene-based diagnosis from individuals with monogenic disease to the prediction of disease risk in the general population. Cardiovascular disease (CVD), as a highly heritable condition with significant public health burden, represents an excellent place to consider the promise and limitations of extending our understanding of rare variation in single gene disorders to the general population.
Notes: Keywords: cardiovascular disease, rare variation.

Thesis Ph.D. Harvard University 2014