Background Recombination rates vary widely across the human genome, but little of that
variation is correlated with known DNA sequence features. The genome contains more than …

Alu elements constitute 10% of the human genome. Alu mobilization is important in the
evolution of the human genome. While retrotransposition is the primary pathway of Alu …

Human genomes are now being rapidly sequenced, but not all forms of genetic variation are
routinely characterized. In this study, we focus on Alu retrotransposition events and seek to …

The goal of the 1000 Genomes Consortium is to characterize human genome structural
variation (SV), including forms of copy number variations such as deletions, duplications …

Identifying features shaping the architecture of sequence variations is important for
understanding genome evolution and mapping disease loci. In this study, high-resolution …

Recombination between Alu elements results in genomic deletions associated with many
human genetic disorders. Here, we compare the reference human and chimpanzee …

Alu are high copy number interspersed repeats that have accumulated near genes during
primate and human evolution. They are a pervasive source of structural variation in modern …

Alu elements make up the largest family of human mobile elements, numbering 1.1 million
copies and comprising 11% of the human genome. As a consequence of evolution and …

Background De novo retrotransposition of Alu elements has been recognized as a major
driver for insertion polymorphisms in human populations. In this study, we exploited Alu …

Relative to genomes of other sequenced organisms, the human genome appears
particularly enriched for large, highly homologous segmental duplications (⩾ 90% sequence …