Article
Structural variants caused by Alu insertions are associated with risks for many human diseases.
Proceedings of the National Academy of Sciences of the United States of America - 16 May 2017
Payer Lindsay M, Steranka Jared P, Yang Wan Rou, Kryatova Maria, Medabalimi Sibyl, Ardeljan Daniel, Liu Chunhong, Boeke Jef D, Avramopoulos Dimitri, Burns Kathleen H
Abstract excerpt
Interspersed repeat sequences comprise much of our DNA, although their functional effects are poorly understood. The most commonly occurring repeat is the Alu short interspersed element. New Alu insertions occur in human populations, and have been responsible for several instances of genetic disease. In this study, we sought to determine if there are instances of polymorphic Alu insertion variants that function...
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