Article
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.
Briefings in bioinformatics - 1 Mar 2015
Yourshaw Michael, Taylor S Paige, Rao Aliz R, Martín Martín G, Nelson Stanley F
Abstract excerpt
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 that is useful to downstream consumers of the data, such as clinical sequencing centers or researchers. These users...
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