DECIPHER

This article is about the biological database. For other uses, see Decipher (disambiguation).
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.

DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA.[1][2][3] It documents submicroscopic chromosome abnormalities (microdeletions and duplications) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser.[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.[1] However it is supported by an international research consortium, with patient data contributed by more than 240 clinical genetics centres from 33 countries. Each centre is represented by an experienced clinical geneticist and a senior molecular cytogeneticist.[6]

  1. ^ a b c d Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, et al. (April 2009). "DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources". Am. J. Hum. Genet. 84 (4): 524–33. doi:10.1016/j.ajhg.2009.03.010. PMC 2667985. PMID 19344873.
  2. ^ a b Swaminathan GJ; Bragin E; Chatzimichali EA; Corpas M; et al. (2012). "DECIPHER: web-based community resource for clinical interpretation of rare variants in developmental disorders". Hum. Mol. Genet. 21 (R1): R37–R44. doi:10.1093/hmg/dds362. PMC 3459644. PMID 22962312.
  3. ^ Bragin E; Chatzimichali EA"; et al. (2014). "DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation". Nucleic Acids Res. 42 (Database issue): D993–D1000. doi:10.1093/nar/gkt937. PMC 3965078. PMID 24150940.
  4. ^ Stewart, A; Brice, P; Burton, H (2007). Genetics, health care, and public policy: an introduction to public health genetics. Cambridge University Press. p. 159. ISBN 978-0-521-52907-5.
  5. ^ Niemitz, E (2009). "DECIPHERing chromosomal imbalances". Nature Genetics. 41 (5): 514. doi:10.1038/ng0509-514.
  6. ^ "About DECIPHER". Wellcome Trust Sanger Institute. Retrieved 12 February 2014.