Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

ABSTRACT: Recurrent deletions have been associated with numerous diseases and genomic disorders. Few, however, have been resolved at the molecular level because their breakpoints often occur in highly copy-number-polymorphic duplicated sequences. We present an approach that uses a combination of somatic cell hybrids, array comparative genomic hybridization, and the specificity of next-generation sequencing to determine breakpoints that occur within segmental duplications. Applying our technique to the 17q21.31 microdeletion syndrome, we used genome sequencing to determine copy-number-variant breakpoints in three deletion-bearing individuals with molecular resolution. For two cases, we observed breakpoints consistent with nonallelic homologous recombination involving only H2 chromosomal haplotypes, a

SUBMITTER: Itsara A 

PROVIDER: S-EPMC3322237 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature