Further Information and References

Additional Databases: The Genome Database (Site Map) Human Genome Variation Society including Variation Databases and Related Sites Human Gene Mutation Database including Locus-Specific Mutation databases Tumor Gene Database Specialized Database can also be listed and found in the "Database Issues" of the journal Nucleic Acid Research in the database categories e.g., Comparative Genomics, Gene Expression, Genetic and Physical Maps, Genomic Databases, Intermolecular Interactions, Metabolic Pathways and Cellular Regulation, Mutation Databases or Pathology. Publications: Landmark Publications - The Human Genome Project First Drafts of Human Genome Sequence (2001) Venter, et al. The sequence of the human genome. Science. 2001 Feb 16;291(5507):1304-51. Lander, et al. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860-921. Completion of Human Genome Project (2003) Jasny, BR, Roberts L. Introduction to Special Issue: Building on the DNA Revolution. Science. 2003 Apr 11;300(5617):277. Collins FS, Morgan M, Patrinos A. The Human Genome Project: lessons from large-scale biology. Science. 2003 Apr 11;300(5617):286-90. Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. Epub 2003 Apr 14. Current Genome Research Williams M. The genome: five years on.Curr Opin Investig Drugs. 2006 Jan;7(1):14-7. Stuber F.Human genotyping. Crit Care Med. 2005 Dec;33(12 Suppl):S453-6. Brent MR.Genome annotation past, present, and future: how to define an ORF at each locus.Genome Res. 2005 Dec;15(12):1777-86. Little PF.Structure and function of the human genome.Genome Res. 2005 Dec;15(12):1759-66. Varki A, Altheide TK.Comparing the human and chimpanzee genomes: searching for needles in a haystack.Genome Res. 2005 Dec;15(12):1746-58. ENCODE Project Consortium. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.Nature. 2007 Jun 14;447(7146):799-816. Gerstein MB, Bruce C, et al.What is a gene, post-ENCODE? History and updated definition. Genome Res. 2007 Jun;17(6):669-81. Human Genome Structural Variation Working Group. Completing the map of human genetic variation. Nature. 2007 May 10;447(7141):161-5. Cotton RG; 2006 Human Variome Project, et al. Recommendations of the 2006 Human Variome Project meeting. Nat Genet. 2007 Apr;39(4):433-6. Using the genome to study diseases and human characteristics Klauk SM.Genetics of autism spectrum disorder. Eur J Hum Genet. 2006 Jun;14(6):714-20. Deary IJ, et al.Genetics of intelligence.Eur J Hum Genet. 2006 Jun;14(6):690-700. Riley B, Kendler KS. Molecular genetic studies of schizophrenia.Eur J Hum Genet. 2006 Jun;14(6):669-80. Lieb JD, et al. Applying whole-genome studies of epigenetic regulation to study human disease.Cytogenet Genome Res. 2006;114(1):1-15. Stratakis CA. Applications of genomic medicine in endocrinology and post-genomic endocrine research.Hormones (Athens). 2005 Jan-Mar;4(1):38-44. Ober C, Hoffjan S. Asthma genetics 2006: the long and winding road to gene discovery.Genes Immun. 2006 Mar;7(2):95-100. Zeggini E, Weedon MN, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007 Jun 1;316(5829):1336-41. Epub 2007 Apr 26. Note that these are only a few examples of recent publications. Gateways and Newsletters: NCBI's Guide to Human Genome Resources UK Human Genome Mapping Project Resource Center National Human Genome Research Institute (NHGRI) National Cancer Institute Nature's Genome Gateway including a link list for Genome Related Sites BioMedNet Reviews (Genetics)(Genomics)(CancerBiology) Human Genome most used links GeneLetter published by GeneSage