Impact of constitutional copy number variants on biological pathway evolution.

ABSTRACT:

Background

Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations. To trace potential evolutionary changes of well-described biological pathways, we jointly queried the genomes and the transcriptomes of a collection of individuals with Caucasian, Asian or Yoruban descent combining high-resolution array and sequencing data.

Results

We implemented an enrichment analysis of pathways accounting for CNVs and genes sizes and detected significant enrichment not only in signal transduction and extracellular biological processes, but also in metabolism pathways. Upon the estimation of CNV population differentiation (CNVs with differ

SUBMITTER: Poptsova M 

PROVIDER: S-EPMC3563492 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature