Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Diagnostic filtering is an important step to analyze the functional and clinical significance of the large number of genetic variants identified from next-generation genome sequencing data. Here, the authors develop a flexible and scalable system for diagnostic filtering of genetic variants using G2...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Q
Acceso en línea:https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares