There are about 8.2 billion people in the world and each one has their own set of common and rare genetic variants. Moreover, environmental exposures determine each person’s risk of disease and potential prognosis.
This presents both challenges and opportunities for researchers, as articulated in the white paper, “Understanding Genetic Variants in Context,” published December 3 in the journal eLife. Authors include several BBI faculty; Christine Queitsch, Ph.D., is a Corresponding Author.
“Our white paper states the challenges as we see them,” said Queitsch, a professor in the UW Department of Genome Sciences. “There are so many variants in human populations and we do not yet understand their effects on phenotype and disease risk. Variant mapping is about 10 years old, and although we have made great strides, it is quite clear that the approaches used to interpret these variants and commonly used cell lines are not sufficient. Human cell lines are not human beings.”
