RT Journal
A1 Hormozdiari, Fereydoun
A1 Alkan, Can
A1 Ventura, Mario
A1 Hajirasouliha, Iman
A1 Malig, Maika
A1 Hach, Faraz
A1 Yorukoglu, Deniz
A1 Dao, Phuong
A1 Bakhshi, Marzieh
A1 Sahinalp, S. Cenk
A1 Eichler, Evan E.
T1 Alu repeat discovery and characterization within human genomes
JF Genome Research 
JO Genome Research 
YR 2011 
FD June 01 
VO 21 
IS 6 
SP 840 
OP 849 
DO 10.1101/gr.115956.110 
UL http://genome.cshlp.org/content/21/6/840.abstract 
AB 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 characterize differences in the pattern of mobile insertion between individuals based on the analysis of eight human genomes sequenced using next-generation sequencing. Applying a rapid read-pair analysis algorithm, we discover 4342 Alu insertions not found in the human reference genome and show that 98% of a selected subset (63/64) experimentally validate. Of these new insertions, 89% correspond to AluY elements, suggesting that they arose by retrotransposition. Eighty percent of the Alu insertions have not been previously reported and more novel events were detected in Africans when compared with non-African samples (76% vs. 69%). Using these data, we develop an experimental and computational screen to identify ancestry informative Alu retrotransposition events among different human populations.