Lesson plan

SnpEff

SnpEff is an open source tool that performs annotation on genetic variants and predicts their effects on genes by using an interval forest approach. This program takes pre-determined variants listed in a data file that contains the nucleotide change and its position and predicts if the variants are deleterious. This program was first developed to predict effects of single nucleotide polymorphisms (SNPs) in Drosophila. As of July 2024, this SnpEff paper has been cited 10076 times. SnpEff has been used for various applications – from personalized medicine, to profiling bacteria. This annotation and prediction software can be compared to ANNOVAR and Variant Effect Predictor, but each use different nomenclatures.

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Article summary

SnpEff is an open source tool that performs annotation on genetic variants and predicts their effects on genes by using an interval forest approach. This program takes pre-determined variants listed in a data file that contains the nucleotide change and its position and predicts if the variants are deleterious. This program was first developed to predict effects of single nucleotide polymorphisms (SNPs) in Drosophila. As of July 2024, this SnpEff paper has been cited 10076 times. SnpEff has been used for various applications – from personalized medicine, to profiling bacteria. This annotation and prediction software can be compared to ANNOVAR and Variant Effect Predictor, but each use different nomenclatures.

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Discussion questions

  1. Summarise the article in your own words. Which single claim would you verify first, and why?
  2. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
  3. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

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Key claims and bibliography are generated from the same tracked claims and sources as the article page.