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SnpEff

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tursynay edited this page Dec 13, 2023 · 2 revisions

Homepage Link: https://pcingola.github.io/SnpEff/

Description: Genetic variant annotation, and functional effect prediction toolbox. It annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes). Features:

  • Supports over 38,000 genomes.
  • Standard ANN annotation format
  • Cancer variants analysis
  • GATK compatible (-o gatk)
  • HGVS notation
  • Sequence Ontology standardized terms
  • Implements VCF annotation standard ANN field.

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Knowledge Providers (KP)

Autonomous Relay Agents (ARA)

Autonomous Relay System (ARS)

Standards and Reference Implementation (SRI)

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