They've Mapped the Human Genome. Now What?
NCBI Website Lets You View the Results
Now that the genome (all of the genetic information possessed by
an organism) has been sequenced, in a widely publicized
international research effort, how can interested parties access the
findings?
The DNA sequence of the human genome is now freely accessible to
all, for public or private use, from NLM's National Center for
Biotechnology Information (NCBI). The web address for the Human
Genome home page is: http://www.ncbi.nlm.nih.gov/genome/guide/human
The completion of a "working draft" of the human genome -- an
important milestone in the Human Genome Project -- was 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 --
without 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 website 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, or 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 accessible via the address above. | 
