Human Genome Project

Human instruction manual

The Human Genome Project (HGP) was launched in the US in 1990 and jointly funded by the National Institutes of Health and the Department of Energy. The announcement of the completion of the draft sequence of the human genome in June, 2000, and its subsequent publication in Nature in February, 2001, marked an important milestone for the HGP. For the first time, scientists were able to view the features of our own human “instruction manual.”

The McDonnell Genome Institute played an integral part in achieving this goal, contributing more than 20% of the draft sequence, and developing a comprehensive BAC clone map of the human genome. In addition, we have identified more than 300,000 single nucleotide polymorphisms, or SNPs, as a member of the SNP Consortium.

A revised assembly of the human genome was made available to the community. This iteration of the human genome assembly represented a continuation of an extensive effort to identify and sequence gaps and fix errant sequence assignments. The culmination of this effort was published in the journal Nature in 2004. The McDonnell Genome Institute took a lead role in the characterization of human chromosomes 2, 4, 7 and Y with subsequent publications for each of these.

HapMap, Genome Reference and other projects

One extension to human whole genome characterization was the HapMap project, which would not have been possible without the available template, or reference, of the human genome sequence. The Genome Reference Consortium (GRC) was also created to improve the sequence quality and accuracy of the human reference genome as its use in the field of genomic research expands to the clinic. Additionally, medical sequencing and structural variation studies of the human genome are underway. These projects promise to provide essential information regarding specific regions of the human genome associated with disease pathogenesis or susceptibility, and demonstrate the importance of investing in the sequencing of the human genome.

Publications

• A physical map of the human genome.
• Initial sequencing and analysis of the human genome.
• A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.
• A physical map of the human Y chromosome.
• Demographic history and rare allele sharing among human populations.
• Diversity of human copy number variation and multicopy genes.
• A map of human genome variation from population-scale sequencing
• Challenges of sequencing human genomes.
• Characterization of missing human genome sequences and copy-number polymorphic insertions.
• Mapping and sequencing of structural variation from eight human genomes.
• A second generation human haplotype map of over 3.1 million SNPs.
• Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.
• Genome-wide detection and characterization of positive selection in human populations.
• Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
• The DNA sequence of the human X chromosome.
• Finishing the euchromatic sequence of the human genome
• The DNA sequence of human chromosome 7.
• The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
• More on the sequencing of the human genome.
• The DNA sequence and analysis of human chromosome 14.
• Comparison of whole genome assemblies of the human genome.
• On the sequencing of the human genome.
• Report of the Fourth International Workshop on Human Chromosome 5 mapping 1996.
• The Human Genome Project: reaching the finish line.
• Generation and analysis of 280,000 human expressed sequence tags.

Related links

• Human Genome Project information archive
• Washington University Newsroom: Human Genome Project Completed