Stefania Fornezza
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View article: Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region
Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region Open
Human chromosome 16p is a hotspot of interspersed segmental duplications (SDs), which have served as row material for gene innovation while also increasing susceptibility to recurrent pathogenic rearrangements. These SDs are organized arou…
View article: <i>AGAP</i>duplicons associate with structural diversity at Chromosome 10q11.22
<i>AGAP</i>duplicons associate with structural diversity at Chromosome 10q11.22 Open
The 10q11.22 chromosomal region is a duplication-rich interval of the human genome and one of the last to be fully assembled. It carries copy number–variable genes associated with intellectual disability, bipolar disorder, and obesity. In …