Public Access To Human Genome

The completion of a "working draft" of the human genome-an important milestone in the Human Genome Project-was announced last June at a press conference at the White House and will be published in the February 15, 2001 issue of Nature.

An ongoing research challenge is to piece together and analyze the multitudes of data produced by the Project. NCBI has completed its first assembly of the DNA sequence into an organized and easily accessible resource-including labels that point to important regions of the sequence such as those containing genes-and is now making it public.

If you think of the genome as a book, it wasn't "read" from cover to cover. Instead, it was photocopied and split into paragraphs-with no spacing or punctuation-before being sequenced by various participants in the Human Genome Project. NCBI scientists are working to put the paragraphs back into their correct order, annotate them with section headings that guide the reader, and create an index to help locate any particular section of interest.

NCBI's Web site serves as an integrated, one-stop, genomic resource for biomedical researchers around the world. Using search and analysis tools developed at NCBI, scientists can, for example:

* find a gene's location in the genome

* find other genes in the same region

* correlate many diseases to genes

* find out if a similar gene exists in another organism

* see genetic variations

The Human Genome data can be downloaded in its entirety, chromosome by chromosome, in segments referred to as "contigs" (for "contiguous sequence"). This data, along with information about the location of genes and other biological features associated with the sequence, is available from NCBI's public FTP site.

For more information and sample searches illustrating how NCBI tools can be used for scientific discovery, see the Introduction to NCBI's Genome Resource or Take a Tour of the Draft Human Genome, both available at http://www.ncbi.nlm.nih.gov/genome/guide/human.