DECIPHER

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DECIPHER

• DatabasE of Chromosomal Imbalance and Phenotype
  in Humans using Ensembl Resources
• To give the key to, to discover the meaning of
  (something obscure and perplexing).
• The New Shorter Oxford English Dictionary (OUP
  1993)

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DECIPHER an international collaboration

• The DECIPHER consortium currently has members,
  based in genetics departments in
• UK
• USA Canada
• Europe
• Australia

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DECIPHER report

• Phenotyping based on terms in London
  neurogenetics database
• Flexible can be configured to work with a wide
  range of arrays
• Lists genes implicated in the deletion with their
  function (where known)
• Report is visible immediately data entry is
  complete
• Can be printed out for the genetics record
• With kind permission

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DECIPHER Ensembl interface

• Displays the microdeletion / duplication in its
  genomic location
• Shows whether a similar change has been reported
  to the database before
• Phenotype visible by mouse-over, enabling
  individual records to be compared

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DECIPHERhttp//decipher.sanger.ac.uk

• Based solely on genomic rather than chromosomal
  analysis
• Allows visualisation of the microdeletion/duplicat
  ion within the Ensembl gene browser
• Collects data on copy number changes in
  individuals with a normal phenotype as well as
  those with an abnormal phenotype to aid in the
  definition of new syndromes and polymorphisms
• An international resource