Making genomics accessible

Genetic diseases caused by random irregularities in the genome (either congenital or acquired) are inherently unique. This raises difficulties for medical practitioners to prescribe targeted treatments for a particular patient. Increasingly, researchers are applying powerful statistical tools that derive insights into a patient’s genome that, combined with medical evidence, can empower doctors to prescribe more effective treatments. One of the major difficulties for both the expert geneticist and the lay person is to get an understanding of how much human genetic variation exists and what it means. Thus, the main goal of our visualization is to build an interactive tool to explore the 1000 genomes data in a way that encourages global exploration of the data, allows drill-down to the single gene level, and ultimately links out to gene specific resources on the web. Mutations and their associated diseases are shown from the mitochondrial genomes of 1400 people.

Users can explore hereditary vision loss at the gene or mutation level.
Users can explore hereditary vision loss at the gene or mutation level.

Last updated:

October 7, 2016