Early post-zygotic mutations contribute to congenital heart disease
Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua Gorham, Angela C. Tai, Hongjian Qi, Steven R. DePalma, David M. McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George Arthur Porter Jr., Deepak Srivastava, , Yufeng Shen
The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.
bioRxiv · Aug 13, 2019 · PreprintBioinformatics