High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.

Feyza YilmazUmamaheswaran GurusamyTrenell J MosleyPille HallastKwondo KimYulia MostovoyRyan H PurcellTamim H ShaikhMichael E ZwickPui-Yan KwokCharles LeeJennifer G Mulle

Published in: Genome medicine (2023)

We have generated the most comprehensive haplotype map for the 3q29 locus using unaffected individuals, probands with del3q29S or dup3q29S, and available parents, and also determined the deletion breakpoint to be within a 374-bp region in one proband with del3q29S. These results should provide a better understanding of the underlying genetic architecture that contributes to the etiology of del3q29S and dup3q29S.

Keyphrases

high resolution
high density
genome wide association study
single cell
single molecule
high speed
copy number