Genomes
The advent of massively parallel sequencing technologies has made it possible for individual genomes to be sequenced to high levels of coverage. To date, at least five human whole genome sequences have been published.
| 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
