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Research Fellow at the ¾ÅÉ«ÊÓƵ, her research centres around the use of different ‘omic’ technologies to improve the diagnostic of rare disorders and help to translate these technologies into the clinic. Dr Oquendo has focused on developing and optimising bioinformatics pipelines for both long and short-read sequencing (DNA and RNA) as well as analysis of genomic and transcriptomic data. Currently working on diagnostics of Primary Cilliary Diskenesia.