DNA Pioneer James Watson.
For this first draft of the human genome the 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 SNP's, as a member of the SNP Consortium. Recently, a revised assembly of the human genome was made available to the community. This latest iteration of the human genome assembly represents 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, 2004.
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 the 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 instruction manual in relation both to one another and to the whole.
The Genome Institute has taken a lead role in the characterization of human chromosomes 2, 4, 7 and Y with subsequent publications for all. A recent extension to human whole genome characterization has been the HapMap project, which would not have been possible without the available template, the human genome sequence. Additionally, medical sequencing and structural variation studies of the human genome are underway or being planned. These projects promise to provide essential information regarding some specific regions of the human genome associated with disease pathogenesis or susceptibility, and again demonstrate the prudence of investing in the sequencing of the human genome.
Modernizing reference genome assemblies.
A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
A map of human genome variation from population-scale sequencing
Mapping and sequencing of structural variation from eight human genomes.
Genome-wide detection and characterization of positive selection in human populations.
A second generation human haplotype map of over 3.1 million SNPs.
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
The DNA sequence of the human X chromosome.
EAnnot: a genome annotation tool using experimental evidence.
Finishing the euchromatic sequence of the human genome
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
PCAP: a whole-genome assembly program.
The DNA sequence of human chromosome 7.
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.
The DNA sequence and analysis of human chromosome 14.
A physical map of the human genome.
Initial sequencing and analysis of the human genome.
The Human Genome Project: reaching the finish line.
Generation and analysis of 280,000 human expressed sequence tags.
| Species Name | Data Type |
|---|---|
| Homo sapiens | FTP Link |
| Homo sapiens | NCBI Genome Page Link |
| Homo sapiens | NCBI Trace Archive Link |
