The document discusses the history and goals of the Human Genome Project, which began in 1990 with the aim of identifying all human genes and determining the sequence of DNA base pairs. Some key goals were to map all genes, determine DNA sequences, and address ethical issues. The project was completed earlier than expected in 2003 and has led to over 1,800 disease genes being discovered and many medical benefits like new diagnostic tests.

1. The Human Genome Project

2. Watson and Crick, May 1953

5. Human Genome Project The Human Genome Project (HGP) is a genetic project designed to help us push through the field of genetics to more understand the how our bodies function genetically

8. US HUMAN GENOME PROJECT

17. How does the human genome stack up? 9 9700 Human immunodeficiency virus (HIV) 3,200 4.6 million Bacterium ( E. coli ) 6,000 12.1 million Yeast ( S. cerevisiae ) 13,000 137 million Fruit fly ( D. melanogaster ) 19,000 97 million Roundworm ( C. elegans ) 25,000 100 million Mustard weed ( A. thaliana ) 30,000 2.6 billion Laboratory mouse ( M. musculus ) 30,000 3 billion Human ( Homo sapiens ) Estimated Genes Genome Size (Bases) Organism

37. Changes occur in DNA sequences = mutations

39. We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.