EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

Abstract Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined. Methods We developed a...

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Bibliographic Details
Main Authors: Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Genome Medicine
Subjects:
Mosaic
Somatic
Congenital heart disease
Exome sequencing
Online Access:http://link.springer.com/article/10.1186/s13073-020-00738-1

Internet

http://link.springer.com/article/10.1186/s13073-020-00738-1

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