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

We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P (www.ebi.ac.uk/gene2phenotype) as an online system to establish, curate and distribute datasets for diagnostic variant...

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Detalles Bibliográficos
Autores principales: Thormann, Anja, Halachev, Mihail, McLaren, William, Moore, David J., Svinti, Victoria, Campbell, Archie, Kerr, Shona M., Tischkowitz, Marc, Hunt, Sarah E., Dunlop, Malcolm G., Hurles, Matthew E., Wright, Caroline F., Firth, Helen V., Cunningham, Fiona, FitzPatrick, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542828/
https://www.ncbi.nlm.nih.gov/pubmed/31147538
http://dx.doi.org/10.1038/s41467-019-10016-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542828/
https://www.ncbi.nlm.nih.gov/pubmed/31147538
http://dx.doi.org/10.1038/s41467-019-10016-3

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