Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

ABSTRACT: Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital abnormalities (ID/MCA) in many laboratories. Although in about 14-18% of such patients, DNA copy-number variants (CNVs) with clinical significance can be detected, microarrays have the disadvantage of missing balanced rearrangements, as well as providing no information about the genomic architecture of structural variants (SVs) like duplications and complex rearrangements. Such information could possibly lead to a better interpretation of the clinical significance of the SV. In this study, the clinical use of mate pair next-generation sequencing was evaluated for the detection and further characterization of structural variants within the genom

SUBMITTER: Vergult S 

PROVIDER: S-EPMC3992577 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature