1. Reanalysis of Clinical Exome Sequencing Data
- Author
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V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, and Xia Wang
- Subjects
business.industry ,Genetic Diseases, Inborn ,Sequence Analysis, DNA ,General Medicine ,Computational biology ,030204 cardiovascular system & hematology ,Article ,03 medical and health sciences ,Phenotype ,0302 clinical medicine ,Mutation ,Exome Sequencing ,Mutation (genetic algorithm) ,Humans ,Medicine ,Exome ,Genetic Testing ,030212 general & internal medicine ,business ,Exome sequencing - Abstract
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...
- Published
- 2019
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