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Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins
High-throughput DNA sequencing has become a mainstay for the discovery of genomic variants that may cause disease or affect phenotype. A next-generation sequencing pipeline typically identifies thousands of variants in each sample. A particular challenge is the annotation of each variant in a way th...
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| Publicat a: | Brief Bioinform |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6283364/ https://ncbi.nlm.nih.gov/pubmed/24626529 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bib/bbu008 |
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