Research & Publications
My laboratory’s focus is use of high-throughput sequencing for diagnosis of hereditary disorders and cancer. We are engaged in collaborative research with a variety of investigators at Yale and elsewhere who use exome or genome sequencing to understand the basis of human disease.
Extensive Research Description
The application of new molecular techniques to clinical diagnosis is the focus of the lab. Translational research projects include use of cutting edge, high-throughput sequencing to detect large structural variation and global methylation alterations in the human germline and in tumors. . Through collaboration with other investigators in the Department of Genetics and elsewhere in the medical school, we carry the most recent discoveries about genetic disorders and novel methodology from the research laboratory to the medical setting.
Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Multiple Endocrine Neoplasia; Neoplastic Syndromes, Hereditary; Skin Neoplasms