Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.

ABSTRACT: In the human genome, it has been estimated that considerably more sequence is under natural selection in non-coding regions [such as transcription-factor binding sites (TF-binding sites) and non-coding RNAs (ncRNAs)] compared to protein-coding ones. However, less attention has been paid to them. To study selective pressure on non-coding elements, we use next-generation sequencing data from the recently completed pilot phase of the 1000 Genomes Project, which, compared to traditional methods, allows for the characterization of a full spectrum of genomic variations, including single-nucleotide polymorphisms (SNPs), short insertions and deletions (indels) and structural variations (SVs). We develop a framework for combining these variation data with non-coding elements, calculating various po

SUBMITTER: Mu XJ 

PROVIDER: S-EPMC3167619 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature