PRJNA431246
Predicting genomic instability and hotspots for Alu/Alu-mediated rearrangements in the human genome
Alu elements, the short interspersed element numbering >1 million copies per human genome, are often found at the breakpoint junctions of genomic rearrangements that can cause disease. To investigate the potential impact of Alu/Alu-mediated rearrangement (AAMR) on genomic variation and human health, we characterized CNV-Alus that are involved in mediating CNVs and predicted genome-wide AAMR hotspots using a bioinformatic approach.