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

Objectives Indian subpopulations (Chenchu, Koya, and Lobana Sikh) were analyzed at the
genetic level for 12 Alu polymorphisms. These markers were then utilized to establish levels …

A comprehensive analysis of the human sex chromosomes was undertaken to assess Alu-
associated human genomic diversity and to identify novel Alu insertion polymorphisms for …

We analyzed the genetic profile of 563 individuals from 12 geographically targeted human
populations from Europe, Asia and Africa using 27 human-specific polymorphic Alu …

Alu elements represent a family of short interspersed DNA elements (SINEs) found in
primate genomes. These are members of a group of transposable elements that integrate …

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 …

A PCR-based method was used to screen 462 individuals from Japan, Papua New Guinea,
Indonesia, and Australia for an Alu family insertion polymorphism. The frequency of this Alu …

Alu elements, the short interspersed element numbering more than 1 million copies per
human genome, can mediate the formation of copy number variants (CNVs) between …

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 …