Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate coverage of the genome (4x to 20x sequencing depth). The recent release of the Illumina HiseqX-Ten allows the sequencing of up to 160 genomes at 30x mean depth in 3 day cycles, at an average cost of $1,000 to $2,000 per genome. We evaluated the capabilities of this new technology by sequencing 10,545 human genomes at high depth. This allowed for the development of a reliable representation of human single nucleotide variation, the reporting of clinically relevant single nucleotide variants and the identification of additional non-reference and of putative human-like sequences.

Learning objectives
1.    Evaluating the impact of deep sequencing for the reporting on single genomes
2.    Understanding the pace of discovery afforded by large scale sequencing of human genomes