Clinical Genomics and Sequencing
Genomics and Disease Risk
Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.
Lisa H. Chadwick, Ph.D.
Jyoti G. Dayal, M.S.
Undiagnosed, Mendelian, rare disease