Recent evolution of human populations at genomic level reflects the adaptions to the living environments, including climate change, availability and stability of nutrients, introduction of novel disease agents. Many genetic regions under positive selection have been identified, which assist us to understand how natural selection has shaped population differences. However, few resources are available to systematically collect and integrate known selective regions and their effects, especially based on recent large-scale human genome data. Here we curated positive selections in different human populations, consisting of 15,472 loci from 132 publications. Among them, 101 publications attempt to study positively selected genomic locus and gene related to specific functions/traits/diseases, and 31 publications to detect the genome-wide selective signals with different statistical methods.
On the other hand, the International HapMap Project and 1000 Genomes Project have produced high quality of genotyping data in large sample size of different human population, which enable us to systematically detect natural selection signals in the genome wide scale. As the genome-wide association studies (GWAS) and the emerging whole genome sequencing studies (WGS) are discovering huge number of disease associated genetic variants, more studies will be placed in the function validation of these genetic variants, where human evolution is an essential integrative part. To facilitate these studies, we further compiled a database which utilized 15 statistical terms for each SNP site from the HapMap III and 1000 Genomes Project. These attributes include variant allele frequency, variant heterozygosity, within population diversity, haplotype homozygosity, long-range haplotypes, pairwise population differentiation and evolutionary conservation. We also provided interactive pages for visualization and annotation of different selective signals.
We believe this resource can help researchers to efficiently identify, validate and visualize putative positively selected loci in human evolution, and to further discover the mechanism behind these natural selections. The database is freely available for searching and downloads at http://jjwanglab.org/dbpshp.
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