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

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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. © The Author(s) 2010. Published by Oxford University Press.

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McLaren, W., Pritchard, B., Rios, D., Chen, Y., Flicek, P., & Cunningham, F. (2010). Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics, 26(16), 2069–2070. https://doi.org/10.1093/bioinformatics/btq330

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