Ontology highlight
ABSTRACT:
SUBMITTER: Sun Z
PROVIDER: S-EPMC3554201 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Sun Zhe Z Liu Pengfei P Jia Xueyuan X Withers Marjorie A MA Jin Li L Lupski James R JR Zhang Feng F
Human molecular genetics 20121116 4
Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms occur between chromosomes versus between or within chromatids has not been systematically investigated. We hypothesized that distinct CNV mutational mechanisms, based on their intrinsic properties, may occur in a ...[more]