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

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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2019
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doaj.org/article/ccd9321a1f9b4997aca42718d842068e

Documents similaires