Assay of nearly 5,000 mutations reveals roots of genetic splicing errors

April 19, 2017

It's not so hard anymore to find genetic variations in patients, said Brown University genomics expert William Fairbrother, but it remains difficult to understand whether and how those mutations undermine health.

In a new study in Nature Genetics, his research team used a new assay technology called "MaPSy" to sort through nearly 5,000 mutations and identify about 500 that led to errors in how cells processed genes. The system also showed precisely how and why the processing failed.

"Today, because we can, we're getting tens of thousands of variants from each individual that could be relevant," said Fairbrother, an associate professor of biology. "We can sequence everything. But we want to know which variants are causing diseases—that's the beginning of precision medicine. How you respond to a therapy is going to be determined by which variant is causing your disease and how."

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