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.