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Database Commons - DECIPHER

DECIPHER

Citations: 41

z-index 1.95

Short name DECIPHER
Full name Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources.
Description The DECIPHER database is 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
URL https://decipher.sanger.ac.uk/
Year founded 2013
Last update & version NA    v8.9
Availability Free to all users
University/Institution hosted Wellcome Trust Sanger Institute
Address Wellcome Trust Sanger Institute,Wellcome Trust Genome Campus,Hinxton,Cambridge CB10 1SD,UK
City Cambridge
Province/State
Country/Region United Kingdom
Contact name G. Jawahar Swaminathan
Contact email ganesh.swaminathan@sanger.ac.uk
Data type(s)
Major organism(s)
Keyword(s)
  • copy number variation
  • pathogenic sequence
  • phenotype
Publication(s)
  • DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. [PMID: 24150940]

    Eugene Bragin, Eleni A Chatzimichali, Caroline F Wright, Matthew E Hurles, Helen V Firth, A Paul Bevan, G Jawahar Swaminathan
    Nucleic acids research 2014:42(Database issue)
    41 Citations (Google Scholar as of 2016-02-28)

    Abstract: The DECIPHER database (https://decipher.sanger.ac.uk/) is 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. In a significant development, we have extended DECIPHER from a database of just copy-number variants to allow upload, annotation and analysis of sequence variants such as single nucleotide variants (SNVs) and InDels. Other notable developments in DECIPHER include a purpose-built, customizable and interactive genome browser to aid combined visualization and interpretation of sequence and copy-number variation against informative datasets of pathogenic and population variation. We have also introduced several new features to our deposition and analysis interface. This article provides an update to the DECIPHER database, an earlier instance of which has been described elsewhere [Swaminathan et al. (2012) DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum. Mol. Genet., 21, R37-R44].

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Tags

Disease DNA Expression Phenotype
Homo sapiens
copy number variation pathogenic sequence phenotype

Record metadata

  • Created on: 2015-06-20
  • Curated by:
    • Jian Sang [2016-04-04]
    • Lin Liu [2016-02-28]
    • Mengwei Li [2016-02-19]
    • Zhang Zhang [2015-06-27]
    • Jian Sang [2015-06-26]
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