A5101502434- Congenital heart defects research
- Genomics and Phylogenetic Studies
- Tissue Engineering and Regenerative Medicine
- Genomic variations and chromosomal abnormalities
- Cancer-related molecular mechanisms research
KU Leuven
2024
Xinjiang Agricultural University
2019
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why incidence of 22q11.2DS much greater than that other genomic disorders remains unknown. Short read sequencing cannot resolve complex segmental duplicon structure to provide direct confirmation hypothesis rearrangements are caused by nonallelic homologous recombination between low copy repeats on Chromosome 22 (LCR22s). To enable haplotype-specific assembly and rearrangement mapping in LCR22 regions, we...
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder. Why incidence of 22q11.2DS much greater than that other genomic disorders remains unknown. Short read sequencing cannot resolve complex segmental duplicon structure to provide direct confirmation hypothesis rearrangements are caused by non-allelic homologous recombination between low copy repeats on chromosome 22 (LCR22s). To enable haplotype-specific assembly and rearrangement mapping in LCR22 regions, we...