Figure 1
From: ENGINES: exploring single nucleotide variation in entire human genomes
Data workflow. Pre-processing of large-scale human variation sources, creation of a data mart from population and variation specific data plus display of results through the web interface. The information taken from dbSNP is used just for mapping purposes - full content is not present on the data mart. HapMap release 28 describes 4,166,638 SNPs all listed by dbSNP build 132, 3,654,377 of these are present in 1000 Genomes Phase I. A total of 28,210,483 unique variants have been detected by the 1000 Genomes Phase I interim analysis, 16,313,540 already listed in dbSNP build 132 (which currently comprises 29,133,600 SNPs in total). Screenshots show a single SNP search for rs4988235; this SNP is located in the MCM6 gene but influences the lactase gene (LCT); the intercontinental global FST value is higher than expected (highlighted in red; 0.320) as it corresponds to the locus that shows the strongest signal of positive selection in the human genome.