The complete genome of an individual by massively parallel DNA sequencing

@article{Wheeler2008TheCG,
  title={The complete genome of an individual by massively parallel DNA sequencing},
  author={David A. Wheeler and Maithreyan Srinivasan and Michael Wayland Egholm and Yufeng Shen and Lei Chen and Amy L. McGuire and Wenshe He and Yi-Ju Chen and Vinod B. Makhijani and George T. Roth and Xavier V. Gomes and Karrie R. Tartaro and Faheem Niazi and Cynthia L. Turcotte and Gerard P. Irzyk and James R. Lupski and Craig Chinault and Xing-zhi Song and Yue Liu and Ye Yuan and Lynne V. Nazareth and Xiang Qin and Donna M. Muzny and Marcel Margulies and George M. Weinstock and Richard A. Gibbs and Jonathan Rothberg},
  journal={Nature},
  year={2008},
  volume={452},
  pages={872-876}
}
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… 

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References

SHOWING 1-10 OF 27 REFERENCES

The Diploid Genome Sequence of an Individual Human

TLDR
A modified version of the Celera assembler is developed to facilitate the identification and comparison of alternate alleles within this individual diploid genome, and a novel haplotype assembly strategy is used, able to span 1.5 Gb of genome sequence in segments >200 kb, providing further precision to the diploids nature of the genome.

Finishing the euchromatic sequence of the human genome

TLDR
The near-complete sequence reported here should serve as a firm foundation for biomedical research in the decades ahead and greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death.

Finishing the euchromatic sequence of the human genome

TLDR
The near-complete sequence reported here should serve as a firm foundation for biomedical research in the decades ahead and greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death.

Global variation in copy number in the human genome

TLDR
A first-generation CNV map of the human genome is constructed through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia, underscoring the importance of CNV in genetic diversity and evolution and the utility of this resource for genetic disease studies.

Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

TLDR
High-throughput and massive paired-end mapping (PEM) was used to map SVs in an African and in a putatively European individual and identified shared and divergent SVs relative to the reference genome, documenting that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function.

Initial sequence of the chimpanzee genome and comparison with the human genome

TLDR
It is found that the patterns of evolution in human and chimpanzee protein-coding genes are highly correlated and dominated by the fixation of neutral and slightly deleterious alleles.

Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution.

TLDR
A pattern of repeat-mediated chromosomal rearrangement, and high coadaptation of both male genes and cis-regulatory sequences emerges as important themes of genome divergence between these species of Drosophila.

Genome sequencing in microfabricated high-density picolitre reactors

TLDR
A scalable, highly parallel sequencing system with raw throughput significantly greater than that of state-of-the-art capillary electrophoresis instruments with 96% coverage at 99.96% accuracy in one run of the machine is described.

The Atlas genome assembly system.

Atlas is a suite of programs developed for assembly of genomes by a "combined approach" that uses DNA sequence reads from both BACs and whole-genome shotgun (WGS) libraries. The BAC clones afford

Human non-synonymous SNPs: server and survey.

TLDR
A World Wide Web server is presented to predict the effect of an nsSNP on protein structure and function and the dependence of selective pressure on the structural and functional properties of proteins is studied.