GeneticsThe American Journal of Human GeneticsPeer-reviewed
Identifying deleterious noncoding variation through gain and loss of CTCF binding activity
Colby A. Tubbs, Mary Lauren Benton, Evonne McArthur…·Douglas M. Ruderfer
The paper develops a method to identify deleterious noncoding variants by analyzing changes in CTCF binding activity across genomic loci and finds that loss of CTCF binding is associated with rare variants.