Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.

ABSTRACT: Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease through triplosensitivity, gene disruption, or gene fusion at breakpoints. The mutational spectrum of duplications has been studied at certain loci, and in some cases these copy-number gains are complex chromosome rearrangements involving triplications and/or inversions. However, the organization of clinically relevant duplications throughout the genome has yet to be investigated on a large scale. Here we fine-mapped 184 germline duplications (14.7 kb-25.3 Mb; median 532 kb) ascertained from individuals referred for diagnostic cytogenetics testing. We

SUBMITTER: Newman S 

PROVIDER: S-EPMC4320257 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature