The 22q11 low copy repeats are characterized by unprecedented size and structure variability
Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven J. Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui–Yan Kwok, Ming Xiao, , Joris Robert Vermeesch
The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.
Genome Research · Sep 1, 2019Peer-reviewedGenomics