The complete genome of an individual by massively parallel DNA sequencing

  title={The complete genome of an individual by massively parallel DNA sequencing},
  author={D. Wheeler and M. Srinivasan and M. Egholm and Y. Shen and L. Chen and A. McGuire and W. He and Y. Chen and V. Makhijani and G. T. Roth and X. Gomes and K. Tartaro and Faheem Niazi and Cynthia L. Turcotte and G. Irzyk and J. Lupski and C. Chinault and X. Song and Y. Liu and Y. Yuan and L. Nazareth and Xiang Qin and D. Muzny and M. Margulies and G. Weinstock and R. Gibbs and J. M. Rothberg},
  • D. Wheeler, M. Srinivasan, +24 authors J. M. Rothberg
  • Published 2008
  • Biology, Medicine
  • Nature
  • The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA… CONTINUE READING
    1,773 Citations

    Paper Mentions

    Observational Patient Registry Clinical Trial
    For some neurological and neurodegenerative diseases genetic inheritance is well documented (described as Mendelian or multifactorial), but sometimes specific mutations or family… Expand
    ConditionsGenetic Disease
    Single-molecule sequencing of an individual human genome
    • 442
    • PDF
    Accurate whole genome sequencing and haplotyping from10-20 human cells
    • 233
    • PDF
    A comprehensively molecular haplotype-resolved genome of a European individual.
    • 78
    • PDF
    Short history of the “Genomic Revolution” and implication for neurological institutes
    Human genome sequencing in health and disease.
    • 369
    • PDF
    Whole-genome resequencing of 100 healthy individuals using DNA pooling
    • 1
    • PDF
    The diploid genome sequence of an Asian individual
    • 946
    • PDF


    The Diploid Genome Sequence of an Individual Human
    • 1,739
    • PDF
    Finishing the euchromatic sequence of the human genome
    • 1,546
    • PDF
    Global variation in copy number in the human genome
    • 3,989
    • PDF
    Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
    • 1,142
    • PDF
    Genome sequencing in microfabricated high-density picolitre reactors
    • 7,367
    • PDF
    The Atlas genome assembly system.
    • 190
    • PDF