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Autor:
Soledad Iseas, Andrea S. Llera, Juan M. Sendoya, Osvaldo L. Podhajcer, Cristóbal Fresno, Gabriela Alejandra Merino, Mariana Coraglio, Elmer Andrés Fernández, Yanina A. Murua, Mariano Golubicki
Publikováno v:
Human Mutation. 38:494-502
Targeted sequencing (TS) is growing as a screening methodology used in research and medical genetics to identify genomic alterations causing human diseases. In general, a list of possible genomic variants is derived from mapped reads through a varian