A minimal role for synonymous variation in human disease

There have been recent claims that synonymous mutations may be nearly as important as other forms of protein-coding variation in causing human disease. In this commentary, we argue that there is insufficient evidence to overturn the large body of evidence that synonymous mutations are predominantly neutral.

Source: The American Journal of Human Genetics - December 1, 2022 Category: Genetics & Stem Cells Authors: Ryan S. Dhindsa, Quanli Wang, Dimitrios Vitsios, Oliver S. Burren, Fengyuan Hu, James E. DiCarlo, Leonid Kruglyak, Daniel G. MacArthur, Matthew E. Hurles, Slav é Petrovski Tags: Commentary Source Type: research