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

摘要

MotivationSingle 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.