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An accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an international consortium of >200 academic clinical centres of genetic medicine and ≥1600 clinical geneticists and diagnostic laboratory scientists. Information integrated from a variety of bioinformatics resources, coupled with visualization tools, provides a comprehensive set of tools to identify other patients with similar genotype-phenotype characteristics and highlights potentially pathogenic genes.

Restrictions to use:
DECIPHER version 9.1
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  • Matthew Hurles <decipher at sanger.ac.uk>


Cambridge University Dept of Medical Genetics, Addenbrooke’s Hospital, Cambridge CB2 2QQ, UK; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK; K.U. Leuven, ESAT/SCD, Kasteelpark Arenberg 10, B-3001 Leuven-Heverlee, Belgium

  • (Chatzimichali et al., 2015) Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Human mutation.
    PMID: 26220709
  • (Bragin et al., 2014) DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic acids research.
    PMID: 24150940
  • (Firth et al., 2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. American journal of human genetics.
    PMID: 19344873
  • Animals
    • Homo sapiens

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