Abstract

We have been mapping structural and regulatory variation in yeast and humans. In humans we have used two approaches, (1) high density tiling arrays and (2) a novel high throughput sequencing strategy to map structural variations in human DNA . We have identified large number of copy number and other variations throughout the human genome. We have also applied the high resolution array technology to mapping chromosomal rearrangements in genetic diseases.

We have also compared transcription factor binding sites within different isolates of yeast and different species. We find extensive variation in transcription factor binding between closely related species. Overall our studies demonstrate considerable structural and regulatory variation between members of a given species and between species.

Korbel JO et al. Paired-end mapping reveals extensive structural variation in the human genome. Science. 2007 Oct 19;318(5849):420-6.

Borneman AR et al. Divergence of transcription factor binding sites across related yeast species. Science. 2007 Aug 10;317(5839):815-9.