
Genomes for medicine | Nature
- Select a language for the TTS:
- UK English Female
- UK English Male
- US English Female
- US English Male
- Australian Female
- Australian Male
- Language selected: (auto detect) - EN
Play all audios:
ABSTRACT We have the human genome sequence. It is freely available, accurate and nearly complete. But is the genome ready for medicine? The new resource is already changing genetic research
strategies to find information of medical value. Now we need high-quality annotation of all the functionally important sequences and the variations within them that contribute to health and
disease. To achieve this, we need more genome sequences, systematic experimental analyses, and extensive information on human phenotypes. Flexible and user-friendly access to well-annotated
genomes will create an environment for innovation, and the potential for unlimited use of sequencing in biomedical research and practice. Access through your institution Buy or subscribe
This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your institution Subscribe to this journal Receive 51 print issues and online access
$199.00 per year only $3.90 per issue Learn more Buy this article * Purchase on SpringerLink * Instant access to full article PDF Buy now Prices may be subject to local taxes which are
calculated during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support REFERENCES * Bentley, D. R. Genomic
sequence information should be released immediately and freely in the public domain. _Science_ 274, 533–534 (1996). Article ADS CAS PubMed Google Scholar * Guyer, M. Statement on the
rapid release of genomic DNA sequence. _Genome Res._ 8, 413 (1998). Article CAS PubMed Google Scholar * International Human Genome Sequencing Consortium. Initial sequencing and analysis
of the human genome. _Nature_ 409, 860–921 (2001). * Venter, J. C. et al. The sequence of the human genome. _Science_ 291, 1304–1351 (2001). Article ADS CAS PubMed Google Scholar *
Rogers, J. The finished sequence of _Homo sapiens_. _Cold Spring Harb. Symp. Quant. Biol._ 68 (in the press). * Mouse Genome Sequencing Consortium. Initial sequencing and comparative
analysis of the mouse genome. _Nature_ 420, 520–562 (2002). * Rat Genome Project Sequencing Consortium. Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
_Nature_ 428, 493–521 (2004). * Adams, M. D. et al. The genome sequence of _Drosophila melanogaster_. _Science_ 287, 2185–2195 (2000). Article PubMed Google Scholar * The _C. elegans_
Sequencing Consortium. Genome sequence of the nematode _C. elegans_: a platform for investigating biology. _Science_ 282, 2012–2018 (1998). * The _Arabidopsis_ Genome Initiative. Analysis of
the genome sequence of the flowering plant _Arabidopsis thaliana_. _Nature_ 408, 796–815 (2000). * Blattner, F. R. et al. The complete genome sequence of _Escherichia coli_ K-12. _Science_
277, 1453–1474 (1997). Article CAS PubMed Google Scholar * Fleischmann, R. D. et al. Whole-genome random sequencing and assembly of _Haemophilus influenzae_ Rd. _Science_ 269, 496–512
(1995). Article ADS CAS PubMed Google Scholar * Cole, S. T. et al. Deciphering the biology of _Mycobacterium tuberculosis_ from the complete genome sequence. _Nature_ 393, 537–544
(1998). Article ADS CAS PubMed Google Scholar * Watson, J. D. & Crick, F. H. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. _Nature_ 171, 737–738
(1953). Article ADS CAS PubMed Google Scholar * Kruglyak, L. & Nickerson, D. A. Variation is the spice of life. _Nature Genet._ 27, 234–236 (2001). Article CAS PubMed Google
Scholar * The International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. _Nature_ 409, 928–933 (2001). * Dunham,
A. et al. The DNA sequence and analysis of human chromosome 13. _Nature_ 428, 522–528 (2004). Article ADS CAS PubMed PubMed Central Google Scholar * The International HapMap
Consortium. The International HapMap Project. _Nature_ 426, 789–796 (2003). * Druker, B. J. Imatinib alone and in combination for chronic myeloid leukemia. _Semin. Hematol._ 40, 50–58
(2003). Article CAS PubMed Google Scholar * Aiuti, A., Ficara, F., Cattaneo, F., Bordignon, C. & Roncarolo, M. G. Gene therapy for adenosine deaminase deficiency. _Curr. Opin.
Allergy Clin. Immunol._ 3, 461–466 (2003). Article CAS PubMed Google Scholar * Hacein-Bey-Abina, S. et al. A serious adverse event after successful gene therapy for X-linked severe
combined immunodeficiency. _N. Engl. J. Med._ 348, 255–256 (2003). Article PubMed Google Scholar * Risch, N. J. Searching for genetic determinants in the new millennium. _Nature_ 405,
847–856 (2000). Article CAS PubMed Google Scholar * Dean, M. et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the _CKR5_ structural gene.
Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. _Science_ 273, 1856–1862 (1996). Article
ADS CAS PubMed Google Scholar * Ozaki, K. et al. Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction. _Nature Genet._ 32, 650–654
(2002). Article CAS PubMed Google Scholar * Van Dellen, A. & Hannan, A. J. Genetic and environmental factors in the pathogenesis of Huntington's disease. _Neurogenetics_ 5,
9–17 (2004). Article CAS PubMed Google Scholar * Georgiou-Karistianis, N. et al. Future directions in research with presymptomatic individuals carrying the gene for Huntington's
disease. _Brain Res. Bull._ 59, 331–338 (2003). Article PubMed Google Scholar * Rioux, J. D. et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn
disease. _Nature Genet._ 29, 223–228 (2001). Article MathSciNet CAS PubMed Google Scholar * Peltekova, V. D. et al. Functional variants of OCTN cation transporter genes are associated
with Crohn disease. _Nature Genet._ 36, 471–475 (2004). Article CAS PubMed Google Scholar * Barroso, I. et al. Dominant negative mutations in human PPARγ associated with severe insulin
resistance, diabetes mellitus and hypertension. _Nature_ 402, 880–883 (1999). Article ADS CAS PubMed Google Scholar * Orr-Urtreger, A. et al. Developmental localization of the splicing
alternatives of fibroblast growth factor receptor-2 (FGFR2). _Dev. Biol._ 158, 475–486 (1993). Article CAS PubMed Google Scholar * Gong, Q. H. et al. Thirteen UDP glucuronosyltransferase
genes are encoded at the human _UGT1_ gene complex locus. _Pharmacogenetics_ 11, 357–368 (2001). Article MathSciNet CAS PubMed Google Scholar * Kampa, D. et al. Novel RNAs identified
from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. _Genome Res._ 14, 331–342 (2004). Article CAS PubMed PubMed Central Google Scholar * Collins, J. E. et al.
Reevaluating human gene annotation: a second-generation analysis of chromosome 22. _Genome Res._ 13, 27–36 (2003). Article CAS PubMed PubMed Central Google Scholar * Calin, G. A. et
al. Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. _Proc. Natl Acad. Sci. USA_ 101, 2999–3004 (2004). Article ADS CAS PubMed PubMed
Central Google Scholar * Ambros, V. et al. A uniform system for microRNA annotation. _RNA_ 9, 277–279 (2003). Article CAS PubMed PubMed Central Google Scholar * Lehner, B., Williams,
G., Campbell, R. D. & Sanderson, C. M. Antisense transcripts in the human genome. _Trends Genet._ 18, 63–65 (2002). Article CAS PubMed Google Scholar * Davidson, E. H. et al. A
genomic regulatory network for development. _Science_ 295, 1669–1678 (2002). Article ADS CAS PubMed Google Scholar * Lee, T. I. et al. Transcriptional regulatory networks in
_Saccharomyces cerevisiae_. _Science_ 298, 799–804 (2002). Article ADS CAS PubMed Google Scholar * Novik, K. L. et al. Epigenomics: genome-wide study of methylation phenomena. _Curr.
Issues Mol. Biol._ 4, 111–128 (2002). CAS PubMed Google Scholar * Roix, J. J., McQueen, P. G., Munson, P. J., Parada, L. A. & Misteli, T. Spatial proximity of translocation-prone gene
loci in human lymphomas. _Nature Genet._ 34, 287–291 (2003). Article CAS PubMed Google Scholar * Thomas, J. W. et al. Comparative analyses of multi-species sequences from targeted
genomic regions. _Nature_ 424, 788–793 (2003). Article ADS CAS PubMed Google Scholar * Margulies, E. H., Blanchette, M., Haussler, D. & Green, E. D. Identification and
characterization of multi-species conserved sequences. _Genome Res._ 13, 2507–2518 (2003). Article CAS PubMed PubMed Central Google Scholar * Boffelli, D. et al. Phylogenetic shadowing
of primate sequences to find functional regions of the human genome. _Science_ 299, 1391–1394 (2003). Article CAS PubMed Google Scholar * Pilpel, Y., Sudarsanam, P. & Church, G. M.
Identifying regulatory networks by combinatorial analysis of promoter elements. _Nature Genet._ 29, 153–159 (2001). Article CAS PubMed Google Scholar * von Mering, C. et al. Comparative
assessment of large-scale data sets of protein–protein interactions. _Nature_ 417, 399–403 (2002). Article ADS CAS PubMed Google Scholar * Bar-Joseph, Z. et al. Computational discovery
of gene modules and regulatory networks. _Nature Biotechnol._ 21, 1337–1342 (2003). Article CAS Google Scholar * Smith, T. Whole genome variation analysis using single molecule
sequencing. _Targets_ (in the press). * Shendure, J., Mitra, R. D., Varma, C. & Church, G. M. Advanced sequencing technologies: methods and goals. _Nature Rev. Genet._ 5, 335–344 (2004).
Article CAS PubMed Google Scholar * Bingley, P. J. et al. Undiagnosed coeliac disease at age seven: population based prospective birth cohort study. _Br. Med. J._ 328, 322–323 (2004).
Article Google Scholar * Golub, T. R. Genomic approaches to the pathogenesis of hematologic malignancy. _Curr. Opin. Hematol._ 8, 252–261 (2001). Article CAS PubMed Google Scholar *
Dowell, R. D., Jokerst, R. M., Day, A., Eddy, S. R. & Stein, L. The distributed annotation system. _BMC Bioinformatics_ 2, 7 (2001). Article CAS PubMed PubMed Central Google Scholar
* Dunham, I. et al. The DNA sequence of human chromosome 22. _Nature_ 402, 489–495 (1999). Article ADS CAS PubMed Google Scholar * Deloukas, P. et al. The DNA sequence and comparative
analysis of human chromosome 20. _Nature_ 414, 865–871 (2001). Article ADS CAS PubMed Google Scholar * Hattori, M. et al. The DNA sequence of human chromosome 21. _Nature_ 405, 311–319
(2000). Article ADS CAS PubMed Google Scholar * Hillier, L. W. et al. The DNA sequence of human chromosome 7. _Nature_ 424, 157–164 (2003). Article ADS CAS PubMed Google Scholar *
Heilig, R. et al. The DNA sequence and analysis of human chromosome 14. _Nature_ 421, 601–607 (2003). Article ADS CAS PubMed Google Scholar * Mungall, A. J. et al. The DNA sequence and
analysis of human chromosome 6. _Nature_ 425, 805–811 (2003). Article ADS CAS PubMed Google Scholar * Skaletsky, H. et al. The male-specific region of the human Y chromosome is a
mosaic of discrete sequence classes. _Nature_ 423, 825–837 (2003). Article ADS CAS PubMed Google Scholar * Grimwood, J. et al. The DNA sequence and biology of human chromosome 19.
_Nature_ 428, 529–535 (2004). Article ADS CAS PubMed Google Scholar * Treasure, T., Waller, D., Swift, S. & Peto, J. Radical surgery for mesothelioma. _Br. Med. J._ 328, 237–238
(2004). Article Google Scholar Download references ACKNOWLEDGEMENTS I thank I. Barroso, A. Coffey, T. Cox, S. Grant, T. Hubbard, S. Hunt, G. Leschziner, E. Margulies, K. Rice, J. Rogers,
M. Ross, C. Shaw-Smith, R. Steward, M. Stratton, C. Tyler-Smith and others for assistance, discussion and critical reading of the manuscript. The author is supported financially by the
Wellcome Trust. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * The Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, Cambridge, UK David R. Bentley Authors * David R. Bentley View author
publications You can also search for this author inPubMed Google Scholar ETHICS DECLARATIONS COMPETING INTERESTS The authors declare that they have no competing financial interests. RIGHTS
AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Bentley, D. Genomes for medicine. _Nature_ 429, 440–445 (2004). https://doi.org/10.1038/nature02622 Download
citation * Issue Date: 27 May 2004 * DOI: https://doi.org/10.1038/nature02622 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable
link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative