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...

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Bibliographic Details
Main Authors: 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
Language:English
Published: Nature Publishing Group 2019-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-10016-3

Internet

https://doi.org/10.1038/s41467-019-10016-3

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