Items Tagged ‘fusion transcript detection’

October 23, 2019 · Leave a Comment

Finding the needle in the haystack: a tool for rare inherited diseases

By Barbara J. Toman Barbara J. Toman (@barbaratoman)

Individualized medicine has had notable success in identifying DNA mutations that cause cancer. But rare inherited diseases pose an even bigger challenge. Like a needle in a haystack, the cause of a rare inherited disease is often deeply buried, in the DNA that comprises genes or controls their expression. Now however, Mayo Clinic’s Center for […]

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Tags: #Gavin Oliver, biioinformatics, center for individualized medicine, fusion transcript detection, fusion transcription, Genetic Testing, genomics, inherited rare diseases, mayo clinic, RNA sequencing


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