Detection of repeat expansions and their role in Mendelian and complex disorders
About the talk: The human genome contains many types of repetitive material including short tandem repeats. Expansions of short tandem repeats can cause rare diseases including Friedreich’s ataxia and Huntington’s disease but are also responsible for GWAS hits such as the C9orf72 repeat expansion in motor neuron disease. In recent years several methods have been developed ...
