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

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.

(Distributed April 19, 2017)
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