BioProject

The sequence-based survey of human genome structural variation aims to characterize common structural variants that are larger than SNPs, for example, multi-base insertions/deletions, inversions, translocations, and duplications. More...

The sequence-based survey of human genome structural variation aims to characterize common structural variants that are larger than SNPs, for example, multi-base insertions/deletions, inversions, translocations, and duplications. The approach entails sequencing the ends of genomic libraries from multiple individuals. Discordant end-sequence placements (ESP) against the reference genome are used to create a map of structural variation and to sequence at the level of single basepair resolution the clone corresponding to the variant. The ESP strategy can be efficiently scaled with current technology and is complementary to efforts to obtain human structural variation information by other technologies. Less...