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Autor:
Eric Boerwinkle, Jeffrey Staples, Ian M. Campbell, James R. Lupski, Richard A. Gibbs, Jennifer E. Below, Matthew N. Bainbridge, Samantha Penney, Shalini N. Jhangiani, Alanna C. Morrison, Tomasz Gambin, Donna M. Muzny, Amy L. McGuire, Wojciech Wiszniewski
Publikováno v:
Genome Medicine
Background Besides its growing importance in clinical diagnostics and understanding the genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich source of additional information of potential clinical utility for physici