A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Cingolani, Pablo; E. Platts, Adrian; Lily Wang, Le; Coon, Melissa; Nguyen, Tung; Wang, Luan; Land, Susan; Lu, Xiangyi; M. Ruden, Douglas

doi:10.4161/fly.19695

Public

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Published in Fly • Apr 1, 2012

Authors:

Pablo Cingolani

Adrian E. Platts

Le Lily Wang

Abstract

We describe a new computer program, SnpEff, for rapidly categorizing the effects of variants in genome sequences. Once a genome is sequenced, SnpEff annotates variants based on their genomic locations and predicts coding effects. Annotated genomic locations include intronic, untranslated region, ups...

Subject

Single-nucleotide polymorphism

Genetics

Biology

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