Genomes for medicine

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.

[1]  Stephen M. Mount,et al.  The genome sequence of Drosophila melanogaster. , 2000, Science.

[2]  Nicola J. Rinaldi,et al.  Computational discovery of gene modules and regulatory networks , 2003, Nature Biotechnology.

[3]  Hiroshi Sato,et al.  Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction , 2002, Nature Genetics.

[4]  Matthew W. Pennington,et al.  Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. , 2001, Pharmacogenetics.

[5]  I. Dunham,et al.  DNA sequence and analysis of human chromosome 9 , 2003, Nature.

[6]  Melanie E. Goward,et al.  The DNA sequence of human chromosome 22 , 1999, Nature.

[7]  J. Bradshaw,et al.  Future directions in research with presymptomatic individuals carrying the gene for Huntington’s disease , 2003, Brain Research Bulletin.

[8]  Ian Dunham,et al.  Reevaluating human gene annotation: a second-generation analysis of chromosome 22. , 2003, Genome research.

[9]  Terrence S. Furey,et al.  The DNA sequence and biology of human chromosome 19 , 2004, Nature.

[10]  D. Nickerson,et al.  Variation is the spice of life , 2001, Nature Genetics.

[11]  D. Givol,et al.  Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2). , 1993, Developmental biology.

[12]  N. W. Davis,et al.  The complete genome sequence of Escherichia coli K-12. , 1997, Science.

[13]  B. Barrell,et al.  Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence , 1998, Nature.

[14]  M. Guyer.  Statement on the rapid release of genomic DNA sequence. , 1998, Genome research.

[15]  Lisa M. D'Souza,et al.  Genome sequence of the Brown Norway rat yields insights into mammalian evolution , 2004, Nature.

[16]  Tom Misteli,et al.  Spatial proximity of translocation-prone gene loci in human lymphomas , 2003, Nature Genetics.

[17]  Tony Smith,et al.  Whole genome variation analysis using single molecule sequencing , 2004 .

[18]  R. Fleischmann,et al.  Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. , 1995, Science.

[19]  G. Church,et al.  Identifying regulatory networks by combinatorial analysis of promoter elements , 2001, Nature Genetics.

[20]  Andrew Smith.  Genome sequence of the nematode C-elegans: A platform for investigating biology , 1998 .

[21]  S. Cawley,et al.  Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. , 2004, Genome research.

[22]  B. Druker.  Imatinib alone and in combination for chronic myeloid leukemia. , 2003, Seminars in hematology.

[23]  J J Goedert,et al.  Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene , 1996, Science.

[24]  The Arabidopsis Genome Initiative.  Analysis of the genome sequence of the flowering plant Arabidopsis thaliana , 2000, Nature.

[25]  Sinead B. O'Leary,et al.  Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease , 2001, Nature Genetics.

[26]  M. Daly,et al.  A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.

[27]  D R Bentley,et al.  Genomic Sequence Information Should Be Released Immediately and Freely in the Public Domain , 1996, Science.

[28]  Ben Lehner,et al.  Antisense transcripts in the human genome. , 2002, Trends in genetics : TIG.

[29]  N. Risch.  Searching for genetic determinants in the new millennium , 2000, Nature.

[30]  Toshihiro Tanaka.  The International HapMap Project , 2003, Nature.

[31]  T. Golub.  Genomic approaches to the pathogenesis of hematologic malignancy , 2001, Current opinion in hematology.

[32]  Sean R. Eddy,et al.  The Distributed Annotation System , 2001, BMC Bioinformatics.

[33]  F. Crick,et al.  Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid , 1953, Nature.

[34]  J. Peto,et al.  Radical surgery for mesothelioma , 2004, BMJ : British Medical Journal.

[35]  Colin N. Dewey,et al.  Initial sequencing and comparative analysis of the mouse genome. , 2002 .

[36]  Nicola J. Rinaldi,et al.  Transcriptional Regulatory Networks in Saccharomyces cerevisiae , 2002, Science.

[37]  C. Croce,et al.  Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[38]  S Beck,et al.  Epigenomics: genome-wide study of methylation phenomena. , 2002, Current issues in molecular biology.

[39]  D. Haussler,et al.  Article Identification and Characterization of Multi-Species Conserved Sequences , 2022 .

[40]  Bill Newman,et al.  Functional variants of OCTN cation transporter genes are associated with Crohn disease , 2004, Nature Genetics.

[41]  M. Hattori,et al.  The DNA sequence of human chromosome 21 , 2000, Nature.

[42]  B. Snel,et al.  Comparative assessment of large-scale data sets of protein–protein interactions , 2002, Nature.

[43]  P. Bingley,et al.  Undiagnosed coeliac disease at age seven: population based prospective birth cohort study , 2004, BMJ : British Medical Journal.

[44]  S. O’Rahilly,et al.  Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension , 1999, Nature.

[45]  Jon D. McAuliffe,et al.  Phylogenetic Shadowing of Primate Sequences to Find Functional Regions of the Human Genome , 2003, Science.

[46]  Christof von Kalle,et al.  A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. , 2003, The New England journal of medicine.

[47]  J. V. Moran,et al.  Initial sequencing and analysis of the human genome. , 2001, Nature.

[48]  M. Roncarolo,et al.  Gene therapy for adenosine deaminase deficiency. , 2010, Immunology and allergy clinics of North America.

[49]  J. Rogers.  The finished genome sequence of Homo sapiens. , 2003, Cold Spring Harbor symposia on quantitative biology.

[50]  T. Graves,et al.  The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes , 2003, Nature.

[51]  D. Mccormick.  Sequence the Human Genome , 1986, Bio/Technology.

[52]  Nancy F. Hansen,et al.  Comparative analyses of multi-species sequences from targeted genomic regions , 2003, Nature.

[53]  L. Hood,et al.  A Genomic Regulatory Network for Development , 2002, Science.

[54]  D R Bentley,et al.  The DNA sequence and comparative analysis of human chromosome 20 , 2004, Nature.

[55]  J. Shendure,et al.  Advanced sequencing technologies: methods and goals , 2004, Nature Reviews Genetics.

[56]  A. Hannan,et al.  Genetic and environmental factors in the pathogenesis of Huntington’s disease , 2004, Neurogenetics.

[57]  G. Ruvkun,et al.  A uniform system for microRNA annotation. , 2003, RNA.