This Month in The Journal

Years of linkage and sequencing studies have demonstrated that the majority of mutations underlying Mendelian disorders reside in the coding region. But many families lack a genetic diagnosis, leading to the suggestion that regulatory regions could be a source of additional pathogenic variation. However, there are only a few examples of monogenic disorders caused by mutations outside of the exons, and the contribution of noncoding regions to Mendelian disease remains unclear. Now, Gasperini et  al.

Source: The American Journal of Human Genetics - August 3, 2017 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors' Corner Source Type: research