February 25, 2011

Please note the following corrections for the indicated sections of the Guide:

Pentose Phosphate Pathway: a better name for the RPIA enzyme is phosphopentose isomerase (pages 65 and 66 in the print version).

Peroxisomes: HACL1 cleaves a formyl group from its substrate as formyl-CoA (page 575).

Stomach, Small Intestine, and Colon: the major source of GIP is the small intestine, not the stomach (page 726).

Please report other errors or omissions via the feedback link. Thanks in advance for helping to improve the Guide.


Welcome to Guide to the Human Genome

December 8, 2010

Welcome to Guide to the Human Genome. The origin of the Guide was the idea that human biology could be presented via the human genome, but the information to make the required connections was simply too hard to find. My hope is that the Guide will provide many of these connections and bioinformatics can be moved to the background. In the end, genomics is just biology.

The Guide has been in development for several years. I hope its hybrid
textbook-database structure helps you find the information you are seeking much as it helps me track what I have already done.

During the online Guide‘s testing period, observing how people use it has led me to wonder why the table of contents of a book is in the front and the index is in the back. The online Guide replaces the index with three search functions: text, genes, and sequences. Combined with a conventional detailed contents list, these entry points are designed to make it easy to get started exploring the human genome.

The Guide is being launched at a time when the human genome sequence and its annotation are considerably more stable than when I began its creation. As a result, my recent focus has been less on genomics and more on connecting the genome to biology. The Guide has a broad scope but I am aware that certain topics of particular interest to me are covered in greater detail. I plan to expand the areas of human biology covered at this level of detail and input from readers will be very helpful in accomplishing this goal.

Any work presenting tens of thousands of pieces of information will contain some errors or omissions. I would appreciate your taking the time to provide feedback, through the comments function below, that would be of great help in improving the Guide.

Guide to the Human Genome

September 16, 2010

Presenting the genes of the human genome in their biological context, Guide to the Human Genome is an extensive resource that provides easy access to information about human genes and their roles in specific processes. With numerous illustrations and tables, each of the nearly 300 sections of the Guide describes genes involved in a specific pathway, process, or structure—from the molecular and cellular levels to developmental and physiological processes. In the online version, available at, these sections contain links to more information about proteins encoded by more than 17,000 known or predicted human genes. For each protein, basic characteristics about its composition and length, its human relatives, its relatedness to proteins in other species, and direct links to resources at NCBI are included. Additional links to NCBI resources are provided for human noncoding RNAs and repeated DNA elements and for proteins of interest from other species. The entire text of the Guide is searchable, and tools are available for identifying human protein sequences using those from other species. The Guide will be useful to researchers looking to connect sequence data with functional information, and it can be used in parallel with traditional texts in undergraduate and graduate courses to provide a genomics dimension and the experience of identifying genes underpinning processes of interest.