Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

ABSTRACT: Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other. SDs mediate chromosomal rearrangements that lead to structural variation in the general population as well as genomic disorders associated with multiple congenital anomalies, including the 7q11.23 (Williams-Beuren Syndrome, WBS), 15q13.3, and 16p12.2 microdeletion syndromes. Population-level characterization of SDs has generally been lacking because most techniques used for analyzing these complex regions are both labor and cost intensive. In this study, we have used a high-throughput technique to genotype complex structural variation with a single molecule, long-range optical mapping approach. We characterized SDs and identified novel structur

SUBMITTER: Mostovoy Y 

PROVIDER: S-EPMC8045732 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature