# DECIPHER

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This article is about the biological database. For other uses, see [Decipher (disambiguation)](/source/Decipher_(disambiguation)).

Biological database

 A segment of the human reference genome, viewed using [Ensembl](/source/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](/source/17q21.3_recurrent_microdeletion_syndrome).

**DECIPHER** is a web-based resource and database of genomic variation data from analysis of patient [DNA](/source/DNA).[1][2][3] It documents submicroscopic [chromosome abnormalities](/source/Chromosome_abnormality) ([microdeletions](/source/Deletion_(genetics)) and [duplications](/source/Gene_duplication)) and pathogenic sequence variants (single nucleotide variants - SNVs, Insertions, Deletions, InDels), from over 25000 patients and maps them to the [human genome](/source/Human_genome) using [Ensembl](/source/Ensembl) or [UCSC Genome Browser](/source/UCSC_Genome_Browser).[1][2][4] In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication [syndromes](/source/Syndrome), together with links to relevant scientific reports and [support groups](/source/Support_group).[1][5]

An [acronym](/source/Acronym) of **DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources**, DECIPHER was initiated in 2004 at the [Sanger Institute](/source/Wellcome_Trust_Sanger_Institute) in the United Kingdom, funded by the [Wellcome Trust](/source/Wellcome_Trust).[1] However it is supported by an international research consortium, with patient data contributed by more than 240 [clinical genetics](/source/Clinical_genetics) centres from 33 countries. Each centre is represented by an experienced clinical geneticist and a senior [molecular cytogeneticist](/source/Molecular_cytogenetics).[6]

## Aims

A schematic representation of a chromosome deletion. DECIPHER maps small deletions detected in patients to the reference genome produced by the [Human Genome Project](/source/Human_Genome_Project).

DECIPHER was established in 2004 by Nigel Carter of the Wellcome Trust Sanger Institute and [Helen Firth](/source/Helen_Firth), a clinical genetics consultant at [Addenbrooke's Hospital](/source/Addenbrooke's_Hospital) in [Cambridge](/source/Cambridge). It has three main aims:[6][7]

- Aid in the interpretation of plausibly pathogenic variants from genome- wide analyses by placing them in the context of known pathogenic variants, other plausibly pathogenic variants and population variation

- Annotate plausibly pathogenic variants with their likely functional impact using Ensembl tools to compare sequence and structural variants with the latest functional annotation of the current human reference genome e.g. define which genes are involved in a specific copy number variant (microdeletion / microduplication) or for sequence variants, whether they are positioned within a gene or regulatory element.

- Facilitate research into the study of genes that affect human health and development to improve diagnosis, management and therapy of rare diseases.

As a tool for clinical geneticists, cytogeneticists and [molecular biologists](/source/Molecular_biologist), DECIPHER is used to determine whether gene [copy number variations](/source/Copy_number_variation) identified in patients are of clinical significance. Members can visualise the genes within the region of DNA altered in their patients, and ascertain whether any are known to be implicated in disease. Chromosomal imbalances are a major cause of developmental delay, learning disabilities and congenital abnormalities and — according to Emily Niemitz writing in *[Nature Genetics](/source/Nature_Genetics)* — the database facilitates collaboration between researchers and clinicians who have patients with similar clinical characteristics, which can "assist in the discovery of new syndromes and in the recognition of genes of clinical importance."[4][5]

## Process

Patients are entered into DECIPHER by registered consortium members. Typically a clinical geneticist arranges for a chromosome analysis (usually [microarray](/source/Microarray) based) of a patient's DNA. A potential microdeletion/microduplication may be identified, but the medical significance is not known.[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](/source/Reference_genome). Using DECIPHER, the clinician can then identify the specific genes affected by the deletion/duplication, determine whether any have known clinical significance (for example, whether [tumour suppressor genes](/source/Tumour_suppressor_genes) have been deleted),[9] and view the region in the Ensembl genome browser to see whether there are any other consented patients in DECIPHER with overlapping deletion/duplications.[8] This enables a better ascertainment of whether a copy number change is a normal [polymorphic](/source/Polymorphism_(biology)) variant, or the likely cause of the patient's [clinical symptoms](/source/Clinical_symptom). The clinician can then counsel the patient on the likely significance of the deletion/duplication, and its implications for their health.[8]

Each patient's data is anonymized, and represented only by an ID with an associated [genotype](/source/Genotype) and set of clinical symptoms ([phenotypes](/source/Phenotype)). Patient data is made accessible to other members of the consortium and viewable through Ensembl if a [consent](/source/Informed_consent) form is signed by the patient.[8] With informed consent, the anonymized deletion/duplication and phenotypes become available for view to DECIPHER consortium members and public users, with different levels of access (e.g. only logged users can see the contact details of the centre that entered the data). 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.

Most patients deposited in DECIPHER display genetic mutations with a very low occurrence in the general population. Hence the probability of the same clinicians encountering similar patients are also low. Since DECIPHER is opened to any accredited clinician or cytogeneticist from around the world, the chances of finding similar rare cases are significantly increased. This on-line sharing of clinical genetic information not only promotes better understanding of microdeletions/microduplications and their associated pathogenic phenotypes, it has also facilitated the discovery of new [syndromes](/source/Syndrome).[10][11][12][13] As of January 2014, over 23000 patients have been entered into the DECIPHER database of which over 10000 are consented.

## Ethics and privacy

The appropriate consent to enter patient data into DECIPHER is obtained by the submitting clinician.[14] Patient consent can be withdrawn at any time, and their data is removed.[7] Often children's records are displayed with the consent of their parents of guardians. 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.[7] Each member centre that uses DECIPHER obtains ethical approval from a research [ethics committee](/source/Ethics_committee_(European_Union)) in their own institution or country, where applicable. In the UK, the [Information Commissioner's Office](/source/Information_Commissioner's_Office) has been notified about DECIPHER in accordance with the [Data Protection Act 1998](/source/Data_Protection_Act_1998).[14] The project is overseen by an [advisory board](/source/Advisory_board) representatives from the field of human genetics, [computational biology](/source/Computational_biology), ethics and law.[15]

To ensure [information privacy](/source/Information_privacy), data is served over an [encrypted](/source/Encrypted) [TLS/SSL](/source/Transport_Layer_Security) connection. Only trusted individuals from recognized medical research centres can access the identity of the center that submitted another patient (permitting them to contact the patient's clinicians should they wish to collaborate). Members of the public may browse consented anonymized patient data in DECIPHER and Ensembl, without the identity of the submitting centre being shown.[8][14]

## See also

- [Virtual Karyotype](/source/Virtual_Karyotype)

- [Mendelian Inheritance in Man](/source/Mendelian_Inheritance_in_Man)

- [MARRVEL](https://en.wikipedia.org/w/index.php?title=MARRVEL&action=edit&redlink=1), a website that uses DECIPHER as one of the six human genetic databases and seven model organism databases to integrate information.

## References

1. ^ [***a***](#cite_ref-Firth_1-0) [***b***](#cite_ref-Firth_1-1) [***c***](#cite_ref-Firth_1-2) [***d***](#cite_ref-Firth_1-3) 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667985). *Am. J. Hum. Genet*. **84** (4): 524–33. [doi](/source/Doi_(identifier)):[10.1016/j.ajhg.2009.03.010](https://doi.org/10.1016%2Fj.ajhg.2009.03.010). [PMC](/source/PMC_(identifier)) [2667985](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667985). [PMID](/source/PMID_(identifier)) [19344873](https://pubmed.ncbi.nlm.nih.gov/19344873).

1. ^ [***a***](#cite_ref-Swaminathan_2-0) [***b***](#cite_ref-Swaminathan_2-1) 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459644). *Hum. Mol. Genet*. **21** (R1): R37–R44. [doi](/source/Doi_(identifier)):[10.1093/hmg/dds362](https://doi.org/10.1093%2Fhmg%2Fdds362). [PMC](/source/PMC_(identifier)) [3459644](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459644). [PMID](/source/PMID_(identifier)) [22962312](https://pubmed.ncbi.nlm.nih.gov/22962312).

1. **[^](#cite_ref-Bragin_3-0)** Bragin E; Chatzimichali EA"; et al. (2014). ["DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078). *Nucleic Acids Res*. **42** (Database issue): D993–D1000. [doi](/source/Doi_(identifier)):[10.1093/nar/gkt937](https://doi.org/10.1093%2Fnar%2Fgkt937). [PMC](/source/PMC_(identifier)) [3965078](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078). [PMID](/source/PMID_(identifier)) [24150940](https://pubmed.ncbi.nlm.nih.gov/24150940).

1. ^ [***a***](#cite_ref-Policy_4-0) [***b***](#cite_ref-Policy_4-1) Stewart, A; Brice, P; Burton, H (2007). [*Genetics, health care, and public policy: an introduction to public health genetics*](https://archive.org/details/geneticshealthca00stew). Cambridge University Press. p. [159](https://archive.org/details/geneticshealthca00stew/page/n173). [ISBN](/source/ISBN_(identifier)) [978-0-521-52907-5](https://en.wikipedia.org/wiki/Special:BookSources/978-0-521-52907-5).

1. ^ [***a***](#cite_ref-Niemitz_5-0) [***b***](#cite_ref-Niemitz_5-1) Niemitz, E (2009). ["DECIPHERing chromosomal imbalances"](https://doi.org/10.1038%2Fng0509-514). *Nature Genetics*. **41** (5): 514. [doi](/source/Doi_(identifier)):[10.1038/ng0509-514](https://doi.org/10.1038%2Fng0509-514).

1. ^ [***a***](#cite_ref-About_6-0) [***b***](#cite_ref-About_6-1) ["About DECIPHER"](https://web.archive.org/web/20180613071354/https://decipher.sanger.ac.uk/about). Wellcome Trust Sanger Institute. Archived from [the original](https://decipher.sanger.ac.uk/about) on 13 June 2018. Retrieved 12 February 2014.

1. ^ [***a***](#cite_ref-Families_7-0) [***b***](#cite_ref-Families_7-1) [***c***](#cite_ref-Families_7-2) Firth, HV (January 2009). ["Welcome to the DECIPHER database: An introduction for Families"](http://decipher.sanger.ac.uk/assets/pdfs/infofam_v5.pdf) (PDF). Wellcome Trust Sanger Institute. Retrieved 12 February 2014.[*[permanent dead link](https://en.wikipedia.org/wiki/Wikipedia:Link_rot)*]

1. ^ [***a***](#cite_ref-flow_8-0) [***b***](#cite_ref-flow_8-1) [***c***](#cite_ref-flow_8-2) [***d***](#cite_ref-flow_8-3) [***e***](#cite_ref-flow_8-4) Firth, HV. ["Data Flow Chart for the DECIPHER Database"](https://web.archive.org/web/20150519044659/https://decipher.sanger.ac.uk/assets/pdfs/decipher_database_flowchart.pdf) (PDF). Wellcome Trust Sanger Institute. Archived from [the original](http://decipher.sanger.ac.uk/assets/pdfs/decipher_database_flowchart.pdf) (PDF) on 19 May 2015. Retrieved 12 February 2014.

1. **[^](#cite_ref-9)** Genes of established clinical significance, including those listed in [OMIM](/source/OMIM), are highlighted as are [imprinted genes](/source/Imprinted_gene).

1. **[^](#cite_ref-synd1_10-0)** Shaw-Smith C, Redon R, Rickman L, et al. (April 2004). ["Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735726). *J. Med. Genet*. **41** (4): 241–8. [doi](/source/Doi_(identifier)):[10.1136/jmg.2003.017731](https://doi.org/10.1136%2Fjmg.2003.017731). [PMC](/source/PMC_(identifier)) [1735726](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735726). [PMID](/source/PMID_(identifier)) [15060094](https://pubmed.ncbi.nlm.nih.gov/15060094).

1. **[^](#cite_ref-synd2_11-0)** Shaw-Smith C, Pittman AM, Willatt L, et al. (September 2006). "Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability". *Nat. Genet*. **38** (9): 1032–7. [doi](/source/Doi_(identifier)):[10.1038/ng1858](https://doi.org/10.1038%2Fng1858). [PMID](/source/PMID_(identifier)) [16906163](https://pubmed.ncbi.nlm.nih.gov/16906163). [S2CID](/source/S2CID_(identifier)) [38047848](https://api.semanticscholar.org/CorpusID:38047848).

1. **[^](#cite_ref-synd3_12-0)** Zahir F, Firth HV, Baross A, et al. (September 2007). ["Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597953). *J. Med. Genet*. **44** (9): 556–61. [doi](/source/Doi_(identifier)):[10.1136/jmg.2007.050823](https://doi.org/10.1136%2Fjmg.2007.050823). [PMC](/source/PMC_(identifier)) [2597953](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597953). [PMID](/source/PMID_(identifier)) [17545556](https://pubmed.ncbi.nlm.nih.gov/17545556).

1. **[^](#cite_ref-synd4_13-0)** Malan V, Raoul O, Firth HV, et al. (September 2009). "19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation". *J. Med. Genet*. **46** (9): 635–40. [doi](/source/Doi_(identifier)):[10.1136/jmg.2008.062034](https://doi.org/10.1136%2Fjmg.2008.062034). [PMID](/source/PMID_(identifier)) [19126570](https://pubmed.ncbi.nlm.nih.gov/19126570). [S2CID](/source/S2CID_(identifier)) [8491797](https://api.semanticscholar.org/CorpusID:8491797).

1. ^ [***a***](#cite_ref-ethics_14-0) [***b***](#cite_ref-ethics_14-1) [***c***](#cite_ref-ethics_14-2) Firth, HV. ["Ethical framework for DECIPHER"](https://decipher.sanger.ac.uk/pdfs/DecipherEthicalFramework.pdf) (PDF). Wellcome Trust Sanger Institute. Retrieved 24 June 2010.[*[permanent dead link](https://en.wikipedia.org/wiki/Wikipedia:Link_rot)*]

1. **[^](#cite_ref-advise_15-0)** ["DECIPHER Advisory Board"](https://decipher.sanger.ac.uk/about/board). Wellcome Trust Sanger Institute. Retrieved 24 June 2010.

## External links

- [The DECIPHER website](https://decipher.sanger.ac.uk)

- [Human Ensembl](http://www.ensembl.org/Homo_sapiens/Info/Index)

- [UCSC Genome Browser](https://genome.ucsc.edu/cgi-bin/hgGateway)

v t e Wellcome Trust Centres and institutes Current Francis Crick Institute Gurdon Institute Sainsbury Wellcome Centre for Neural Circuits and Behaviour Science Learning Centres WTC for Cell-Matrix Research WTC for Gene Regulation and Expression WTC for Human Genetics WTC for Mitochondrial Research WTC for Molecular Parasitology WTC for Neuroimaging WTC for Stem Cell Research Wellcome Sanger Institute Former Wellcome Trust Centre for the History of Medicine Wellcome Research Laboratories Projects and facilities 1000 Genomes Project Big Picture Cambridge Biomedical Campus Cancer Genome Project ChEMBL Coalition for Epidemic Preparedness Innovations COSMIC cancer database DECIPHER Diamond Light Source eLife Ensembl Farmcare Genome Reference Consortium Human Genome Project Malawi Liverpool Wellcome Trust MEROPS Pfam Rfam UK Biobank Wellcome Collection Wellcome Genome Campus Wellcome Library WormBase Board of governors Eliza Manningham-Buller Michael Ferguson Tobias Bonhoeffer Alan Brown William Burns Bryan Grenfell Naguib Kheraj Fiona Powrie Executive leadership team Jeremy Farrar Chris Bird Stephen Caddick Simon Chaplin Alyson Fox Peter Pereira Gray Mark Henderson Chonnettia Jones Tim Livett Nick Moakes Kathy Poole Jim Smith James Thomas Ed Whiting Former directors Peter Williams (1965–1991) Bridget Ogilvie (1991–1998) Michael Dexter (1998–2008) Mark Walport (2003–2013) Other key people Damon Buffini William Castell Dominic Cadbury Harold Cook Kay Davies Oliver Franks Roger Gibbs Henry Dale Richard Hynes Anne Johnson Roy Porter Peter Rigby David Steel David Stuart John Sulston Henry Wellcome Awards and fellowships Capital Awards Collaborative Awards in Science Investigator Awards in Science Institutional Strategic Support Fund Science Strategic Award Sir Henry Dale Fellowship Sir Henry Wellcome Postdoctoral Fellowship Wellcome Book Prize Wellcome Image Awards Wellcome Trust Centre Wellcome Trust Principal Research Fellow Wellcome Trust Senior Research Fellow Category

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Adapted from the Wikipedia article [DECIPHER](https://en.wikipedia.org/wiki/DECIPHER) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/DECIPHER?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.