Reanalysis of Clinical Exome Sequencing Data

著者: Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang - New England Journal of Medicine, NEJM 2019 被引用: 298

Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...