DECIPHER

[1][2][4] In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.

[1][5] An acronym of DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources, DECIPHER was initiated in 2004 at the Sanger Institute in the United Kingdom, funded by the Wellcome Trust.

[6] DECIPHER was established in 2004 by Nigel Carter of the Wellcome Trust Sanger Institute and Helen Firth, a clinical genetics consultant at Addenbrooke's Hospital in Cambridge.

[8] The clinician may enter the anonymised data into the restricted, password protected DECIPHER database and map the location and size of the chromosomal deletion/duplication to the reference genome.

Public users who wish to find more information about a patient may send a request to DECIPHER, which then will forward it to the clinician coordinator responsible for the submitting center.

DECIPHER advises that, when the child reaches the age of sixteen years, he or she be made aware of the entry and be given the opportunity to withdraw or continue as a participant.

Members of the public may browse consented anonymized patient data in DECIPHER and Ensembl, without the identity of the submitting centre being shown.

A segment of the human reference genome, viewed using Ensembl with the DECIPHER track enabled. Red bars represent individual mutations for anonymous patients with deletions across this region, while green bars represent patients with duplications across this region. The region shown encompasses the segment of chromosome missing in patients with 17q21.3 recurrent microdeletion syndrome .
A schematic representation of a chromosome deletion. DECIPHER maps small deletions detected in patients to the reference genome produced by the Human Genome Project .