February 28, Thu 2013
9:30 am, MRB 200 Conference Room
Dr. Alexej Abyzov
Department of Molecular Biophysics and Biochemistry, Yale University
Detecting Genomic Variations in Human Cells and Determining their Impact
Genome variations, particularly structural genome variations, are a complex not completely understood phenomenon. In humans, genome variations have been linked to cancer as well as to inherited and Mendelian diseases. The wealth of recent genomic sequencing data enables the studying of genome variations on an unprecedented scale (from the analysis of large populations to understanding somatic variations within a single individual) and with unprecedented accuracy (often with single base pair resolution). In my seminar, I will first describe several methodologies that I have developed to analyze genome structural variations using sequence data, outlining their advantages and limitations. I will then demonstrate how identifying a comprehensive set of personal variants is crucial for the discovery of de novo variants, serves as a basis for unbiased functional analyses, leads to the generation of a biological hypothesis about cell processes, allows for understanding of the stability of iPSC genomes, and enables evaluation of the extent of somatic variants in individual cells.