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.