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Five years’ experience of the clinical exome sequencing in a Spanish single center by A. Arteche-López, A. Ávila-Fernández, R. Riveiro Álvarez, B. Almoguera, A. Bustamante Aragonés, I. Martin-Merida, M. A. López Martínez, A. Giménez Pardo, C. Vélez-Monsalve, J. Gallego Merlo, I. García Vara, F. Blanco-Kelly, S. Tahsin Swafiri, I. Lorda Sánchez, M. J. Trujillo Tiebas, C. Ayuso
Published 2022-11-01
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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes by A. Arteche-López, A. Ávila-Fernández, R. Romero, R. Riveiro-Álvarez, M. A. López-Martínez, A. Giménez-Pardo, C. Vélez-Monsalve, J. Gallego-Merlo, I. García-Vara, Berta Almoguera, A. Bustamante-Aragonés, F. Blanco-Kelly, S. Tahsin-Swafiri, E. Rodríguez-Pinilla, P. Minguez, I. Lorda, M. J. Trujillo-Tiebas, C. Ayuso
Published 2021-03-01
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