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- Q5204775 subject Q7329501.
- Q5204775 subject Q7355752.
- Q5204775 subject Q8375929.
- Q5204775 subject Q8911343.
- Q5204775 subject Q9558471.
- Q5204775 abstract "DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. 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. 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.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. 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.".
- Q5204775 thumbnail DECIPHER_example.png?width=300.
- Q5204775 wikiPageExternalLink hgGateway.
- Q5204775 wikiPageExternalLink Index.
- Q5204775 wikiPageExternalLink decipher.sanger.ac.uk.
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- Q5204775 wikiPageWikiLink Q8375929.
- Q5204775 wikiPageWikiLink Q8911343.
- Q5204775 wikiPageWikiLink Q9558471.
- Q5204775 wikiPageWikiLink Q976454.
- Q5204775 comment "DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. 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.".
- Q5204775 label "DECIPHER".
- Q5204775 depiction DECIPHER_example.png.