Guide to the Human GenomeThere’s much excitement here at CSHL in anticipation of the popular annual Biology of Genomes meeting, which begins tonight. For the next 6 days, scientists from around the world will assemble on campus to discuss the latest advances in genome research as they relate to evolution, biology, and disease in a variety of organisms—including humans.

This year marks the 10th anniversary of the publication of the draft human genome sequence. What has it told us about human biology? Do we know the function of every gene in the human genome?

To address these questions, Stewart Scherer has spent substantial time and effort compiling information from the scientific literature about human genes and their biological functions.  The result is a new online resource, Guide to the Human Genome, that puts the genes of the human genome in their biological context. The Guide, available at, provides extensive up-to-date information about human genes in an easily accessible format.

The Guide contains nearly 300 sections, each of which describes genes involved in a specific pathway, process, or structure—from the molecular and cellular levels to developmental and physiological processes.  For example, it contains sections entitled “Telomere Functions,” “MAP Kinase Pathways,” “Potassium Channels,” “Lipid Metabolism,” “Cardiovascular System,” and “Circadian Rhythms”; each of these sections describes the genes involved in that specific process (and the roles of their corresponding proteins).  The text of these sections is also available as a book.

The online version also contains links to more information about proteins encoded by over 17,000 known or predicted human genes. For each protein, basic characteristics about its composition and length, its human relatives and relatedness to proteins in other species, and direct links to resources at NCBI are included. The entire text of the Guide is searchable, and tools are available for identifying human protein sequences using those from other species.

In the video below, Scherer demonstrates how to use the Guide.

The Guide is useful for researchers looking to connect sequence data with functional information, and can be used in parallel with traditional texts in undergraduate and graduate courses to provide a genomics dimension and experience of identifying genes underpinning processes of interest.

“The Guide is not simply a textbook, a database, a review article, or a reference book,” writes Scherer. “By combining aspects of all of them, I hope it is useful to students, faculty, and researchers.”