Relative effects of mutability and selection on single nucleotide polymorphisms in transcribed regions of the human genome.

ABSTRACT:

Motivation

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in humans. However, the factors that affect SNP density are poorly understood. The goal of this study was to estimate the relative effects of mutability and selection on SNP density in transcribed regions of human genes. It is important for prediction of the regions that harbor functional polymorphisms.

Results

We used frequency-validated SNPs resulting from single-nucleotide substitutions. SNPs were subdivided into five functional categories: (i) 5' untranslated region (UTR) SNPs, (ii) 3' UTR SNPs, (iii) synonymous SNPs, (iv) SNPs producing conservative missense mutations, and (v) SNPs producing radical missense mutations. Each of these categories was further subdivided into nine

SUBMITTER: Gorlov IP 

PROVIDER: S-EPMC2442617 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature