Direct Grant for Research 2019/2021 (4/6/2020)

Chromosome insertions are known to cause human diseases but by conventional cytogenetics, the incidence is rare and estimated at 1 in 8,000 live births. However by genome sequencing, we discovered a novel type of insertion, which involves tandem repeat in the flanking regions of the insertion loci. This is a study of the novel replication-based insertion duplication to understand its breakpoint patterns and flanking sequences to determine its mechanisms of formation. Our investigation would provide an insight for the occurrence of human genomic rare structural rearrangements.