publication . Article . Other literature type . 2008

Accurate whole human genome sequencing using reversible terminator chemistry

Andrew Osnowski; Shankar Balasubramanian; John W. Martin; Lea Pickering; Eric Vermaas; Steven W. Short; Paula Kokko-Gonzales; Karin Fuentes Fajardo; Stephanie vandeVondele; Lu Zhang; ...
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Open Access
  • Published: 01 Nov 2008 Journal: Nature, volume 456, pages 53-59 (issn: 0028-0836, eissn: 1476-4687, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
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 se...
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doi: 10.1038/nature07517
pmc: PMC2581791
pmid: 18987734
Subjects
free text keywords: Multidisciplinary, Article, Paired-end tag, Genomics, Hybrid genome assembly, Deep sequencing, Genetics, Computational biology, DNA sequencing theory, Biology, 2 base encoding, Sequence assembly, Whole genome sequencing
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  • Funder: Wellcome Trust (WT)
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