Developmental Eye Defects
Mutations in the gene PAX2 are responsible for the renal coloboma syndrome, an autosomal dominant disorder characterzied by severe disabling eye abnormalities and kidney failure. These researchers have performed an RNA-seq experiment to identify genes that are regulated by PAX2 expression, and further experiments are in progress. They are using Galaxy and other relevant packages to store and analyze data output from the Biomedical Genomics Center from their RNA-seq experiments.
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