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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Document Type

Article

Author

Romero, R.; de la Fuente, L.; Del Pozo-Valero, M.; Riveiro-Álvarez, R.; Trujillo-Tiebas, M.J.; Martín-Mérida, I.; Ávila-Fernández, A.; Iancu, I.-F.; Perea-Romero, I.; Núñez-Moreno, G.; Damián, A.; Rodilla, C.; Almoguera, B.; Cortón, M.; Ayuso, C.; Mínguez, P.

Source

In: npj Genomic Medicine. (npj Genomic Medicine, December 2022, 7(1))

Subject

Language

English

ISSN

20567944

Online Access

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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