I-37: Establishing High Resolution Genomic Profiles of Single Cells Using Microarray and Next-Generation Sequencing Technologies

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genome amplifications that enable the detection of DNA-copy number variants with unprecedented accuracy and reliability, profiling the architecture of structural variants, as well as genotyping a single cell to the DNAbasepair level. These methods will expedite novel applications in basic genome research and clinical practice.