Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project

MK Konkel, JA Walker, AB Hotard… - Genome biology and …, 2015 - academic.oup.com
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 …

Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

DJ Witherspoon, Y Zhang, J Xing, WS Watkins… - Genome …, 2013 - genome.cshlp.org
Alu retrotransposons are the most numerous and active mobile elements in humans,
causing genetic disease and creating genomic diversity. Mobile element scanning (ME …

Alu repeat discovery and characterization within human genomes

F Hormozdiari, C Alkan, M Ventura… - Genome …, 2011 - genome.cshlp.org
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 …

Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity

ML Carroll, AM Roy-Engel, SV Nguyen… - Journal of molecular …, 2001 - Elsevier
We have utilized computational biology to screen GenBank for the presence of recently
integrated Ya5 and Yb8 Alu family members. Our analysis identified 2640 Ya5 Alu family …

Discovery and characterization of Alu repeat sequences via precise local read assembly

JH Wildschutte, A Baron, NM Diroff… - Nucleic acids …, 2015 - academic.oup.com
Alu insertions have contributed to> 11% of the human genome and∼ 30–35 Alu subfamilies
remain actively mobile, yet the characterization of polymorphic Alu insertions from short-read …

Potential gene conversion and source genes for recently integrated Alu elements

AM Roy, ML Carroll, SV Nguyen, AH Salem… - Genome …, 2000 - genome.cshlp.org
Alu elements comprise> 10% of the human genome. We have used a computational biology
approach to analyze the human genomic DNA sequence databases to determine the impact …

Recently integrated Alu retrotransposons are essentially neutral residents of the human genome

R Cordaux, J Lee, L Dinoso, MA Batzer - Gene, 2006 - Elsevier
Alu elements represent the largest family of human mobile elements in copy number. A
controversial issue with implications for both Alu biology and human genome evolution is …

Recent Insertion of an Alu Element Within a Polymorphic Human-Specific Alu Insertion

D Comas, S Plaza, F Calafell, A Sajantila… - Molecular Biology …, 2001 - academic.oup.com
Alu elements are a family of short interspersed repeats that have mobilized throughout
primate genomes by retrotransposition over the past 65 Myr of primate evolution (for a …

Estimating the retrotransposition rate of human Alu elements

R Cordaux, DJ Hedges, SW Herke, MA Batzer - Gene, 2006 - Elsevier
Mobile elements such as Alu repeats have substantially altered the architecture of the
human genome, and de novo mobile element insertions sometimes cause genetic …

Genetic and epigenetic variations contributed by Alu retrotransposition

A de Andrade, M Wang, MF Bonaldo, H Xie, MB Soares - BMC genomics, 2011 - Springer
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 …