The complete genome of an individual by massively parallel DNA sequencing

Nature

Volumn 452, Issue 7189, 2008, Pages 872-876

  Wheeler, David A ^a   Srinivasan, Maithreyan ^b   Egholm, Michael ^b   Shen, Yufeng ^a   Chen, Lei ^a   McGuire, Amy ^a   He, Wen ^b   Chen, Yi Ju ^b   Makhijani, Vinod ^b   Roth, G Thomas ^b   Gomes, Xavier ^b   Tartaro, Karrie ^b,d   Niazi, Faheem ^b   Turcotte, Cynthia L ^b   Irzyk, Gerard P ^b   Lupski, James R ^a,c   Chinault, Craig ^a   Song, Xing Zhi ^a   Liu, Yue ^a   Yuan, Ye ^a   Nazareth, Lynne ^a   Qin, Xiang ^a   Muzny, Donna M ^a   Margulies, Marcel ^b   Weinstock, George M ^a   Gibbs, Richard A ^a   Rothberg, Jonathan M ^b,d,e   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b 454 Life Sciences Roche Diagnostics ^*  (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d CARESTREAM HEALTH INC   (United States)

^e Rothberg Institute for Childhood Diseases   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CHROMOSOME; DNA; ELECTROKINESIS; GENETIC VARIATION; GENOMICS; HOMINID; NUCLEIC ACID ANALYSIS; TECHNOLOGICAL DEVELOPMENT;

ARTICLE; DNA SEQUENCE; GENE DELETION; GENE INSERTION; GENETIC PROCEDURES; GENOMICS; HUMAN; HUMAN GENOME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BACTERIA (MICROORGANISMS);

EID: 42249087308     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature06884     Document Type: Article

References (21)

1. The International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431, 931-945 (2004).
2. Levy, S. et al. The diploid genome sequence of a single individual. PLoS Biol. 5, e254-e286 (2007).
3. Margulies, M. et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 437, 376-380 (2005).
4. Bennett, E. A., Coleman, L. E., Tsui, C., Pittard, W. S. & Devine, S. E. Natural genetic variation caused by transposable elements in humans. Genetics 168, 933-951 (2004).
5. The Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
6. Lupski, J. R. & Stankiewicz, P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genetics 1, 627-633 (2005).
7. Weber, J. L. et al. Human diallelic insertion/deletion polymorphisms. Am. J. Hum. Genet. 71, 854-862 (2002).
8. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
9. Kidd, J. M., Newman, T. L., Tuzun, E., Kaul, R. & Eichler, E. E. Population stratification of a common APOBEC gene deletion polymorphism. PLOS Genetics 3, 584-592 (2007).
10. Lupski, J. R. Structural variation in the human genome. N. Engl. J. Med. 356, 1169-1171 (2007).
11. Stenson, P. D. et al. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21, 577-581 (2003).
12. Halligan, D. L. & Keightley, P. D. How many lethal alleles? Trends Genet. 19, 57-59 (2003).
13. Bittles, A. H. & Neel, J. V. The costs of human inbreeding and their implications for variations at the DNA level. Nature Genet. 8, 117-121 (1994).
14. Vogel, F. & Motulsky, A. G. Human Genetics: Problems and Approaches 2nd edn 487-502 (Springer-Verlag, New York, 1986).
15. Ramensky, V., Bork, P. & Sunyaev, S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30, 3894-3900 (2002).
16. Korbel, J. O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
17. McGuire, A. L., Caulfield, T. & Cho, M. K. Research ethics and the challenge of whole genome sequencing. Nature Rev. Genet. 9, 152-156 (2008).
18. Havlak, P. et al. The Atlas genome assembly system. Genome Res. 14, 721-732 (2004).
19. Richards, S. et al. Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res. 15, 1-18 (2005).
20. Ewing, B. & Green, P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res. 8, 186-194 (1998).
21. Lander, E. S. & Waterman, M. S. Genomic mapping by fingerprinting random clones: a mathematical analysis. Genomics 2, 231-239 (1988).