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    Genomes

    The advent of massively parallel sequencing technologies has made it possible for individual genomes to be sequenced to high levels of coverage.  The pace of whole-genome sequencing is so rapid that this page is woefully out of date. I keep it up for historic reasons only!

    STUDY SAMPLE NGS DEPTH SNPS NOVEL
    Wheeler et al. 1 Watson (Nobel laureate) 454 7.4x 3,322,093 606,797
    Ley et al. 2 AML (Leukemia patient) Illumina 32.7x 2,584,418* 422,723
    Bentley et al. 3 YRI (Yoruban male) Illumina 40.6x 4,139,196 526,698
    Wang et al. 4 CHB (Han Chinese) Illumina 36.0x 3,074,097 417,016
    Ahn et al. 5 SJK (Korean male) Illumina 28.95x 3,439,107 420,083
    McKernan et al. 6 YRI (Yoruban male) SOLiD 17.9x 3,866,085 734,556

    Note that another genome has also been sequenced, that of DNA sequencing pioneer J. Craig Venter, but the platform was traditional 3730 sequencing.  I don’t expect to see another of those.

    References

    [1] Wheeler, D., et al. (2008). The complete genome of an individual by massively parallel DNA sequencing. Nature, 452 (7189), 872-876 DOI: 10.1038/nature06884

    [2] Ley, T., Mardis, E., Ding, L., et al. (2008). DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature, 456 (7218), 66-72 DOI: 10.1038/nature07485

    [3] Bentley, D., et al. (2008). Accurate whole human genome sequencing using reversible terminator chemistry. Nature, 456 (7218), 53-59 DOI: 10.1038/nature07517

    [4] Wang, J., Wang, W., et al. (2008). The diploid genome sequence of an Asian individual. Nature, 456 (7218), 60-65 DOI: 10.1038/nature07484

    [5] Ahn, S., et al. (2009). The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group. Genome Research DOI: 10.1101/gr.092197.109

    [6] McKernan, K., et al. (2009). Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two base encoding Genome Research DOI: 10.1101/gr.091868.109