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Oxford University Press (OUP), Bioinformatics, 16(26), p. 2069-2070

DOI: 10.1093/bioinformatics/btq330

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

Journal article published in 2010 by William McLaren, Bethan Pritchard, Daniel Rios, Yuan Chen, Paul Flicek, Fiona Cunningham
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 Ensembl Genomes supported species.