1,000 Genomes and UK10K Analysis Pipelines

The 1,000 Genomes and UK10K projects are two large scale sequencing projects with the aim of identifying low frequency genetic variations in the human population. The 1,000 Genomes Project is sequencing the genomes of over 1,000 individuals from populations around the world looking far variants with a frequency of around 1%, while the UK10K Project aims to improve this to 0.1% by sequencing the genomes of over 10,000 individuals from the UK. Large amounts of low-coverage whole-genome and high- coverage exome targeted sequence is being generated using next-generation sequencing technologies; the UK10K project is expected to generate about 100Tbp of raw sequence. We present our solutions to deal with some of the bioinformatics challenges posed by the size and scope of these projects.