"Accurate whole human genome sequencing using reversible terminator
chemistry," by David R. Bentley, et al., Nature,
456(7218): 861-72, 30 November 2007.
[Author's affiliations: 7 institutions worldwide]
Abstract: DNA sequence information underpins genetic
research, enabling discoveries of important biological or medical benefit.
Sequencing projects have traditionally used long (400 - 800 base pair)
reads, but the existence of reference sequences for the human and many
other genomes makes it possible to develop new, fast approaches to
re-sequencing, whereby shorter reads are compared to a reference to
identify intraspecies genetic variation. Here we report an approach that
generates several billion bases of accurate nucleotide sequence per
experiment at low cost. Single molecules of DNA are attached to a flat
surface, amplified in situ and used as templates for synthetic
sequencing with fluorescent reversible terminator deoxyribonucleotides.
Images of the surface are analysed to generate high- quality sequence. We
demonstrate application of this approach to human genome sequencing on
flow-sorted X chromosomes and then scale the approach to determine the
genome sequence of a male Yoruba from Ibadan, Nigeria. We build an accurate
consensus sequence from > 30X average depth of paired 35-base reads. We
characterize four million single-nucleotide polymorphisms and four hundred
thousand structural variants, many of which were previously unknown. Our
approach is effective for accurate, rapid and economical whole-genome
re-sequencing and many other biomedical applications.
This 2008 report from Nature was cited 40
times in current journal articles indexed by Clarivate
during September-October 2009. Only one other biology paper published in
the last two years, aside from reviews, collected a higher number of
citations during that two-month period. Prior to the most recent bimonthly
count, citations to the paper have accrued as follows:
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