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How to See the Whole Elephant How to See the Whole Elephant

Understanding the Human Genome:

Human Chromosome Explorer bridges important gaps in the human genome.

The United States enjoys some of the finest healthcare in the world, yet many Americans still suffer with chronic illnesses. Autoimmune diseases affect 23.5 million to 50 million Americans, depending on which diseases are counted.1 And the number of Americans with Alzheimer's is expected to increase from 5.7 million today to 14 million by 2050.2

Although the mapping of the human genome, a landmark reached in 2003,3 has fueled a growing tide of research into the relationship between genes and these diseases, many parts of the genome remain poorly understood. The knowledge gained since 2003 is driving the area of personalized medicine, in which diagnosis and treatment of disease are based on an individual’s genetic makeup. But an understanding of the full picture of genomic data remains elusive.

It’s like the parable,“The Blind Men and the Elephant.” Each man touches a different part of the elephant and comes away with a very different vision of the beast—because none has the whole picture. The human genome project is the result of thousands of researchers around the world contributing data, using different types of technology—but these technologies don’t always work well together, and the big picture has yet to be seen.

"Autoimmune Disease Statistics,” American Autoimmune Related Diseases Association,accessed June 15, 2018,
“Alzheimer’s Disease Facts and Figures 2018,” Alzheimer’s Association,accessed June 15, 2018,
“All About the Human Genome Project (HGP),” National Human Genome Research Institute, accessed June 15, 2018,
Luke Hickeyand Aaron Wenger, “Structural Variation Offers New Hope for Disease Associations and Gene Discovery,” Drug Discovery & Development Magazine, October 23, 2017,accessed June 15, 2018,
DF Conrad, D Pinto,R Redon, L Feuk, O Gokcumen, Y Zhang, et al., “Origins and functional impact of copy number variation in the human genome.” Nature. 2010;464:704–12.