Optically Mapped Black Genomes: Distinct Structures and 22q11.2 Deletion Syndrome Mechanisms
Steven J. Pastor, Oanh Tran, Ryan Lapointe, Arnold Z. Olali, Douglas C. Wallace, Bernice E. Morrow, Elaine H. Zackai, Donna M. McDonald‐McGinn, Beverly S. Emanuel
The paper analyzes optical mapping data from Black and white genomes to reveal structural differences in 22q11.2 low copy repeats (LCR22s) and their potential role in the lower prevalence of 22q11.2DS in Black individuals.
bioRxiv · Jul 8, 2024 · PreprintGenomics