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Science Functional Genomics
The Human Genome

Human Genome Links

Assembly of the complete sequence appears to confirm that the human genome includes no more than 30,000 protein coding genes. The number of Web pages about the genome, on the other hand, would seem to have no practical limit. Below, we present a highly selective sampling of some of the hundreds of sites out there that deal, in some sense, with the human genome and its longer-term scientific and social implications. The list is hardly comprehensive -- for that, you might want to turn to the copious pages of resources archived at ExPASy or Oak Ridge. Instead, we've merely provided some trailheads for exploring the nature of the genome, the direction in which postgenomic science is headed, and what it all means.

(Note: For more a more extensive selection of resources on genomics and postgenomics, please be sure to visit our pages of scientific and educational resources.)

General information

These are resouces, intended both for scientific community and lay audiences, that provide general information on the scope of the human genome, the how-to of sequencing, and some of the broad implications of the project.

Human Genome Project Information (Oak Ridge National Laboratory)
One of the more popular genomics sites on the Web, with well-ordered, link-rich pages on genomic research, education, ethics, and genomic medicine. A fact sheet on sequencing offers a thumbnail sketch of the basics of gene sequencing; more thorough treatments can be found two online publications-- A Primer on Molecular Genetics, an early-1990s book that covers the basics of mapping, sequencing, and bioinformatics; and To Know Ourselves, which overviews the publicly funded Human Genome Project and the U.S. Department of Energy's role in it.
National Human Genome Research Institute
Main site for the principal funding, administrative, and support agency of the Human Genome Project. Recently added to the site's offerings was a Web version of "The Human Genome Project: Exploring Our Molecular Selves," a multimedia education kit produced by NHGRI and cosponsored by the U.S. Department of Energy, the Howard Hughes Medical Institute, PhRMA, the American Society of Human Genetics, Nature, and Science.
Sequencing the Human Genome
Streaming-video archive of a two-day symposium, sponsored by the American Museum of Natural History. Interesting coverage of the scientific, medical, legal, and ethical challenges presented by the availability of genomic data.
Frequently Asked Questions About the Human Genome
Straightforward, unusually lucid description of the how and why of human genome sequencing, by one of the sequencing centers of the public consortium, the French sequencing center Genoscope. Covers the sequencing strategies of both the public and (to a lesser extent) Celera efforts. Also available in a French version.
Genetics Education Center
No-frills, useful collection of links on genomics, from the University of Kansas Medical Center. Geared especially for educators and students, but useful for anyone with more than a passing interest. (The UKMC site also includes nice resource pages on clinical genetics and genetic conditions and support groups.)
Finding the Right Word
Our page providing brief descriptions of a variety of online glossaries in genetics, genomics, and biotechnology.

Sequencing and annotating the genome

The huge task of sequencing and annotating the human genome has generated an appropriately huge number of Web sites, a tiny fraction of which are presented here. Oak Ridge and NCBI offer comprehensive links of labs involved in the public sequencing effort.

Making Sense of the Sequence
"Future Directions" article by David Galas, in Science's Human Genome issue, offers an engaging introduction to sequence data and the tools used to analyze it.
National Center for Biotechnology Information
The principal U.S. hub for digital molecular-biology data. Originally centered around GenBank, one of the three main sequence-data repositories in the International Nucleotide Sequence Database Collaboration, NCBI was also the birthplace of BLAST, a popular program for investigating similarities among different sequences, and hosts an impressive array of other tools(described below, under "Looking beyond the sequence") for post-genomic analysis. The Human Genome Map Viewer provides a nice, chromosome-map-based entry point into the data, as well as a set of maps to investigate homology between the human and mouse sequences. The Human Genome: A Guide to Online Information Resources overviews what the NCBI servers have to offer specifically for human genomics. NCBI has also put together a new "tour" page, The Draft Human Genome Sequence: A Summary, that provides examples of how the sequence data can be put to practical use.
European Bioinformatics Institute
A second member of the International Nucleotide Sequence Database Consortium, with its own impressive array of sequence-searching tools. Particularly noteworthy is GeneQuiz, which provides automated annotation of a wide variety of nucleotide and protein sequences.
DNA Data Bank of Japan
The third of the international public database collaborators. The site's Human Genomics Studio offers a pleasant, intuitive interface into the human genome database.
Celera Genomics
Web gateway and data repository for the private-industry sequencing project, the results of which were published in Science. Site includes a nice Flash-driven introduction to genomic data and sequencing that is targeted at lay audiences (and that, not surprisingly, focuses on the whole-genome shotgun approach).
Project Ensembl
World-class site, under active development, that provides sequence and baseline annotation data, as well as a variety of other tools for analysis of sequence homology and disease association, all delivered in an intuitive map interface. A joint project of EBI and the Sanger Center.
Human Genome Project Working Draft (University of California, Santa Cruz)
Links to assembly of working draft of the human genome from the public project, with an exceptional genome browser (written up in our genome viewers section) that includes well-integrated information on known or suspected genes, single-nucleotide polymorphisms, expressed sequence tags, and a host of other parameters.
The Genome Database
The "official central respository for genomic mapping data resulting from the Human Genome Initiative." Enormous collection of map data, addressable through a Java-based MapViewer; not everything is easy to find, however, and you'll want to access the site through its site map. Site also is home to the HUGO Human Chromosomes page, a nicely linked chromosome-by-chomosome archive of resources managed by the UK-based Human Genome Organisation.
Human Genome Research Group of the RIKEN Genomic Sciences Center
A Japanese sequencing partner in the public project. Site includes interface for the Human Genome Reconstruction Project (HGREP), which features a contig-map-based viewer that attempts to give "an overview of the entire human genome structure."
Human Genome Sequencing Center, Baylor College of Medicine
A key partner in the public sequencing consortium, offering a variety of well-regarded bioinformatics tools, accessible through a centralized "SearchLauncher" engine.

Looking beyond the sequence

The excitement surrounding the sequencing of the human genome, of course, rests not in the raw stream of billions of base pairs, but in the advances the sequence will allow in understanding human biology. The practical uses of the sequence, broadly subsumed under the heading "postgenomics," include comparisons among the genomes of different organisms, the search for information on gene function and expression through new technologies such as microarrays, and the emerging science of proteomics. Presented below are both resources that provide an introduction to some of these fields, and sites for data and tools for postgenomic study.

Genomics Glossaries
An extremely useful set of glossaries, culled from a variety of sources and compiled by Cambridge Healthech Institute, an organizer of scientific conferences. Though some of the material is geared toward promotion of CHI events, in general the glossaries give a broad view of postgenomic disciplines, and can be read as an introduction to the world beyond the sequence.
Nucleic Acids Research Database Issue
The vast amounts of nucleotide, protein, and other data that now characterize the molecular-biology scene, married to the capabilities of the World Wide Web, have spawned a sometimes bewildering collection of electronic databases. The first 2001 number of Nucleic Acids Research provided overview articles on some 95 public databases covering the full spectrum of molecular biology.

Drawing comparisons

Functional and Comparative Genomics Fact Sheet
Brief introduction, from ORNL, to the role of functional and comparative studies in contemporary biomedicine.
Genome Channel
Java-based DOE genome browser with a heavy comparative-genomics slant; attempts to bring genomes of a wide variety of organisms (including Homo sapiens) within a single interface.
Model Organisms for Biomedical Research
Nicely designed collection of discussions and resources, from NIH, on the importance and uses of animal models.

Looking at gene expression

Post-genomics tools at NCBI
The sequencing repository offers a variety of tools for handling data of interest to postgenomics. Gene Expression Omnibus, for example, is an attempt to do for expression data what GenBank did for sequence data. SAGEmap supports the data-intensive technique called serial analysis of gene expression. And UniGene is designed to provide automated sequence clustering for cluster analysis, a key technique in the study of gene expression.
National Center for Genome Resources
Nonprofit organization actively involved, through its GeneX project, in efforts to develop an open-source data model and a common, XML-based language for exchange of gene expression data. Includes pointers to a variety of online gene expression resources.
GEML Community
Another effort at a standard language for exchange of gene expression data, developed by the commercial firm Rosetta Inpharmics.
DNA Microarray (Genome Chip)
Microarrays, which potentially allow researchers to study interactions among thousands of genes, are generally viewed as one of the touchstone technologies of postgenomics. This densely packed page by Leming Shi of BASF Corp. provides a thorough introduction to these "genome chips," and richly rewards a close reading.
Microarray Informatics at EBI
Overview page of EBI's microarray efforts includes a nice page of microarray links and a slide-show introduction to microarray technology.

Proteomics and Pathways

Proteomics in Genomeland
"Future Directions" article by Stanley Fields, in Science's Human Genome issue, looks at the large-scale study of protein function, interactions, and modifications that has become a growing focus of molecular biology.
From Proteomics to Modern Medicine
Archived Webcast of a 31 January 2001 symposium at the New York Academy of Sciences that sought to provide a glimpse of "the next revolution in biotechnology."
Expert Protein Analysis System (ExPASy) Molecular Biology Server
Enormous, thoroughly impressive collection of databases and tools for the working molecular biologist, from the Swiss Institute of Bioinformatics. Not only the home for the well-known Swiss-Prot protein sequence database, but includes other databases on protein structure and protein families, as well as a suite of its own proteomics tools and external links to dozens more. Also on the site: a random-access collection of molecular-biology humor (really!), and Swiss-Quiz, a brutal ten-question online mol-bio exam (prize to two lucky winners per month: a sampling of Swiss chocolate).
Biopathways Consortium
One of several groups seeking to promote a common, XML-based standard for exchanging information on protein-protein interactions and biochemical pathways.

Medical uses of human genome data

The prospects and pitfalls of genomic medicine play out in a wide variety of Web sites. Here's a small sample.

Dissecting Human Disease in the Postgenomic World
"Future Directions" article by Leena Peltonen and Victor McKusick, in Science's Human Genome issue, outlines the prospects for medical advances spurred by the availability of the complete human nucleotide sequence.
Genes and Disease
Very nice presentation from NCBI covering a range of genetic diseases. Presentation has something to offer for a wide range of users: Lay audiences can find valuable basic information on the genetic dimensions of particular ailments; somewhat more sophisticated users can drill down to more detailed information on specific genetic links, via near-seamless integration with tools such as NCBI's LocusLink, which provides curated sequence and descriptive information and Web links on specific genetic loci. Extremely well done.
GeneLetter
Valuable online magazine on advances and issues in clinical genetics, as well as ethical dimensions to genetic and genomic research, pitched at both lay audiences and medical professionals.
GeneClinics
Excellent information resource on genetic diseases and their associated genes, from the University of Washington. Users can browse a list of 108 diseases. Clicking on a disease brings up a detailed, nicely curated and linked discussion of the disease's diagnosis, genetic-counseling issues, and molecular genetics; the presentation is well integrated with other services such as NCBI's LocusLink, the NCBI/Hopkins database Online Mendelian Inheritance in Man, and the Weizmann Institute's GeneCards (see below). Aimed at clinical geneticists, but contains a wealth of information both for other scientists and the general public.
Human Chromosome Launchpad
Straightforward but impressive chromosome-by-chromosome entry point to resources about the human genome, with a particular focus on genetic disorders.
Online Mendelian Inheritance in Man (OMIM)
Widely cited catalog of genes and genetic orders, amply cross-linked to other NCBI resources.
GeneCards: Human Genes, Maps, Proteins, and Diseases
Powerful database of information and links on disease, gene, and protein interactions. Entering a particular gene brings up a well-organized, rich table of resources for diseases associated with that gene (see the example for BRCA1). The site's search engine lets you access the database by gene, protein, disease, chromosome, or other strings.
The SNP Consortium
Single nucleotide polymorphisms (SNPs) -- DNA alterations involving a single base pair in the sequence -- occupy an important position in research on clinical genetics, both as possible sources of disease and as passive markers for harmful mutations. This consortium of academic institutions, nonprofit organizations, and commercial firms has fashioned a database of more than 850,000 SNPs.
Cancer Genome Anatomy Project

Ethical and social implications


The Human Genome and Our View of Ourselves (S. Pääbo)
Political Issues in the Genome Era (J. M. Jeffords and T. Daschle)
"Future Directions" articles in Science's Human Genome issue provide a perspective on the philosophical and political dimensions of the availability of draft genome sequences.
World Survey of Funding for Genomics Research
Who's paying, and why, is often an emotionally and even politically charged question in the realm of biotechnology and genomic research. This site, a project of Robert Cook-Deegan, provides hard data on the government, nonprofit, and commercial organizations underwriting genomic research, how much they're spending, and who holds the most patents listed in the DNA Patent Database (the clear winner in the latter tally being the U.S. government).
Ethical, Legal, and Social Issues (ELSI) Sites at Oak Ridge and NHGRI
Bioethics.net
Commercialising the Genome: Legal Standards and Ethics (Centre for Law and Genetics)
National Biothics Advisory Commission
Nuffield Council on Bioethics
NDB Musical Atlas
Arhive of unusual and (perhaps not surprisingly) rather minimalist music based on the four-letter genetic code, from the Nucleic Acid Database
The Human Genome, by All of the Top Cartoonists
Slate collection of perspectives on the human genome by leading editorial cartoonists

Know of a useful resource we've missed? E-mail us the URL at sfg-feedback@aaas.org.




Copyright © 2004 by The American Association for the Advancement of Science. All rights reserved.