A British approach to sampling.

摘要

The acronym 'PoBF may not yet be familiar to human geneticists in the way that 'HGDP', 'WTCCC or 'HapMap' are, but a paper in this issue of EJHG that introduces the 'People of the British Isles' project to the scientific community aims to change this. The PoBI project will collect up to 5000 DNA samples from diverse regions of the British Isles, taking great care to sample individuals with several generations of ancestry in rural locations. These samples are intended to serve as controls for future medical genetic studies, and to provide insights into the peopling of the British Isles over the last few millennia. Many have already been genotyped on standard SNP chips, and 100 have been sequenced genome-wide by the 1000 Genomes Project. Cell lines and sequence data from the latter are already available (http://www.1000genomes.org/home). Although readers will have to wait for future publications to discover the insights from these large-scale genetic analyses, the current paper describes the sampling strategy and initial 3865 samples in some detail, outlines an approach to investigating fine-scale population structure using surnames, and presents some preliminary genetic analyses of a handful of chosen loci.