MVP predicts the pathogenicity of missense variants by deep learning by Hongjian Qi, Haicang Zhang, Yige Zhao, Chen Chen, John J. Long, Wendy K. Chung, Yongtao Guan, Yufeng Shen

Get full text

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

Get full text

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. by Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud ElFiky, Jay M Wilson, Debbie Nickerson, Michael Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen

Get full text