Article
Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project.
Genome biology and evolution - 29 Aug 2015
Konkel Miriam K, Walker Jerilyn A, Hotard Ashley B, Ranck Megan C, Fontenot Catherine C, Storer Jessica, Stewart Chip, Marth Gabor T, Batzer Mark A
Abstract excerpt
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, and insertions. Mobile element insertions, particularly Alu elements, are major contributors to genomic SV among humans. During the pilot phase of the project we experimentally validated 645 (611 intergenic and 34 exon targeted) polymorphic...
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