My research group is broadly interested in the application of sequencing technologies in medical genetics and genomics, using a combination of wet lab and computational approaches. As a clinician, I am actively involved in the care of patients with hereditary disorders, and the research questions that my group investigates have direct relevance to patient care. One project uses genome sequencing in families with likely hereditary cancer susceptibility in order to identify novel genes that may be involved in monogenic forms of cancer predisposition. Another major avenue of investigation examines the use of genome-scale sequencing in clinical medicine, ranging from diagnostic testing to newborn screening, to screening in healthy adults.,My research group is broadly interested in the application of sequencing technologies in medical genetics and genomics, using a combination of wet lab and computational approaches. As a clinician, I am actively involved in the care of patients with hereditary disorders, and the research questions that my group investigates have direct relevance to patient care. One project uses genome sequencing in families with likely hereditary cancer susceptibility in order to identify novel genes that may be involved in monogenic forms of cancer predisposition. Another major avenue of investigation examines the use of genome-scale sequencing in clinical medicine, ranging from diagnostic testing to newborn screening, to screening in healthy adults.<\/p>\n","protected":false},"featured_media":4255,"template":"","meta":{"_acf_changed":false},"affiliation":[37,9],"database-category":[295],"expert-year":[287],"class_list":["post-4254","faculty-expert","type-faculty-expert","status-publish","has-post-thumbnail","hentry","affiliation-bioinfo","affiliation-genetics","database-category-genetics-and-gene-therapy","expert-year-287","odd"],"acf":[],"yoast_head":"\n