Recent Advances in Studying of Copy Number Variation and Gene Expression

Abstract

Copy number variations (CNVs) are gains and losses of genomic sequence between two individuals of a species. CNV can have a significant impact on the expression of genes mapped within, nearby and far away from the CNV event itself. Earlier studies have revealed that CNV effects can be caused by affecting gene dosage, through position effect, altering downstream pathways and regulatory networks, or modifying the chromosome structure and position within the nucleus. We will first review recently published results based on high-resolution CNV and transcriptome data. We will then discuss new insights brought by emerging new technologies of next generation sequencing and single-cell sequencing.