An African, Yoruban male genome by Illumina. 2008 Nature

Accurate whole human genome sequencing using reversible terminator chemistry


They reported an approach that generates several billion bases of nucleotide sequence per experiment at a relatively low cost. Single molecules of DNA were attached to a flat surface, amplified

in situ and used as templates for synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides. 
Images of the surface were analysed to generate high-quality sequence. They demonstrated the application of their approach to human genome sequencing on flow-sorted X chromosomes and then scaled the approach to determine the genome sequence of a male Yoruba from Ibadan, Nigeria. 
They built a consensus sequence from over 30 fold average depth of paired 35-base reads. They characterized 4 million single-nucleotide polymorphisms and 4 hundred thousand structural variants, many of which were previously unknown. Their approach was reported to be effective for accurate, rapid, and economical whole-genome re-sequencing and many other biomedical applications.