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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Summary: A tool to predict the effect that newly discovered genomic variants have on known transcripts is indispensible in prioritizing and categorizing such variants. In Ensembl, a web-based tool (the SNP Effect Predictor) and API interface can now functionally annotate variants in all Ensembl and...

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Autors principals: McLaren, William, Pritchard, Bethan, Rios, Daniel, Chen, Yuan, Flicek, Paul, Cunningham, Fiona
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2916720/
https://ncbi.nlm.nih.gov/pubmed/20562413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btq330
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