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Understanding the pathogenic impact of 3’-untranslated region variants in rare diseases
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Modern genome-wide sequencing methods in combination with state of the art annotation approaches, including the pipeline implemented by Genomics England provide an unique opportunity to characterise the role of non-coding mutations in pathogenesis of rare diseases. We will investigate previously under looked genetic variations at the very end of human genes that can have pronounced functional consequences. By comparing rate and severity of these mutations in rare diseases with the normal population we aim to improve diagnoses and our understanding of genetic disorders.
