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 …

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 …

[HTML][HTML] In search of polymorphic Alu insertions with restricted geographic distributions

R Cordaux, D Srikanta, J Lee, M Stoneking, MA Batzer - Genomics, 2007 - Elsevier
Alu elements are transposable elements that have reached over one million copies in the
human genome. Some Alu elements inserted in the genome so recently that they are still …

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 …

Recently integrated human Alu repeats: finding needles in the haystack

AM Roy, ML Carroll, DH Kass, SV Nguyen, AH Salem… - Genetica, 1999 - Springer
Alu elements undergo amplification through retroposition and integration into new locations
throughout primate genomes. Over 500,000 Alu elements reside in the human genome …

TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data

C Goubert, J Thomas, LM Payer, JM Kidd… - Nucleic acids …, 2020 - academic.oup.com
Alu retrotransposons account for more than 10% of the human genome, and insertions of
these elements create structural variants segregating in human populations. Such …

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 …

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 …

[HTML][HTML] Alu repeats increase local recombination rates

DJ Witherspoon, WS Watkins, Y Zhang, J Xing… - BMC genomics, 2009 - Springer
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 …

Whole-genome analysis of Alu repeat elements reveals complex evolutionary history

AL Price, E Eskin, PA Pevzner - Genome research, 2004 - genome.cshlp.org
Alu repeats are the most abundant family of repeats in the human genome, with over 1
million copies comprising 10% of the genome. They have been implicated in human genetic …