Paired-end mapping reveals extensive structural variation in the human genome

Science. 2007 Oct 19;318(5849):420-6. doi: 10.1126/science.1149504. Epub 2007 Sep 27.

Abstract

Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) approximately 3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and in a putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Inversion
  • Chromosome Mapping
  • Computational Biology
  • Female
  • Gene Fusion
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Mutagenesis, Insertional
  • Mutation*
  • Oligonucleotide Array Sequence Analysis
  • Recombination, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Retroelements
  • Sequence Analysis, DNA
  • Sequence Deletion

Substances

  • Retroelements