Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

ABSTRACT: Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to accurately define the underlying complex rearrangement, predict the occurrence mechanisms and identify additional complexities. Here, we utilized WGS to delineate the rearrangement structure of 21 clustered CNV carriers first investigated by CMA and identified a total of 83 breakpoint junctions (BPJs). The rearrangements were further sub-classified depending on the patterns observed: I) Cases with only deletions (n = 8) often had additional structural rearrangements, such as insertions and inversions typical to chromothripsis; II) cases wit

SUBMITTER: Nazaryan-Petersen L 

PROVIDER: S-EPMC6258378 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature