Example 1

Consider a patient with anemia whose blood tests reveal a globin chain imbalance caused by a much greater synthesis of alpha-globin than beta-globin protein; this is characteristic of beta-thalassemia. Suppose you are interested in the regulatory mutations that cause this, especially deletions, and in particular, you would like to see how they correspond with the experimental data on function coming from ENCODE.

This can be accomplished by combining the query capabilities of GenPhen with the Genome Browser's ability to display ENCODE data. GenPhen is a database of anonymized patient information, and its query interface allows you to query on various aspects of the clinical presentation, laboratory findings, etc. First, go to the GenPhen query form to search for patients with a high alpha/beta ratio (say, greater than 2.5). Fill in the "Laboratory_Findings" section as shown below; then click the "Submit Query" button at the bottom of the form.

(Note that GenPhen is still in a prototype stage, and its query form needs some work. For example, you will need to scroll through a long list to find "Biosynthesis: alpha/beta ratio". Also, much of the sample data in GenPhen is either artificial or averaged over multiple patients, until privacy issues can be resolved.)

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