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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Brief Bioinform
Hauptverfasser: Yourshaw, Michael, Taylor, S. Paige, Rao, Aliz R., Martín, Martín G., Nelson, Stanley F.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
Schlagworte:
Online Zugang: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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