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

@inproceedings{Konkel2015SequenceAA,
  title={Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project},
  author={Miriam Konkel and Jerilyn A. Walker and Ashley B. Hotard and Megan C. Ranck and Catherine C. Fontenot and Jessica Storer and Chip Stewart and Gabor T. Marth and Mark A. Batzer},
  booktitle={Genome biology and evolution},
  year={2015}
}
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 "young" Alu insertion events, absent from the human reference genome. Here, we… CONTINUE READING
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