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

ABSTRACT: Alu retrotransposons are the most numerous and active mobile elements in humans, causing genetic disease and creating genomic diversity. Mobile element scanning (ME-Scan) enables comprehensive and affordable identification of mobile element insertions (MEI) using targeted high-throughput sequencing of multiplexed MEI junction libraries. In a single experiment, ME-Scan identifies nearly all AluYb8 and AluYb9 elements, with high sensitivity for both rare and common insertions, in 169 individuals of diverse ancestry. ME-Scan detects heterozygous insertions in single individuals with 91% sensitivity. Insertion presence or absence states determined by ME-Scan are 95% concordant with those determined by locus-specific PCR assays. By sampling diverse populations from Africa, South Asia, and Europ

SUBMITTER: Witherspoon DJ 

PROVIDER: S-EPMC3698510 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature