Article

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

2020-05-02

Abstract excerpt

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 synd...

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Literature Corpus work: 145a5012-afc8-5128-9908-fa9374dbffea
DOI: 10.1101/2020.04.30.071449

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