Andrea Lobo,  —

Articles by Andrea Lobo

Short-read genome sequencing test may help diagnose atypical FA

Short-read genome sequencing (SR-GS), a test that can identify difficult-to-detect mutations, may help to correctly diagnose atypical Friedreich’s ataxia (FA) in people whose symptoms and family history are not indicative of FA, a study in Germany shows. The study, “Short-read genome sequencing allows ‘en route’ diagnosis of patients…