DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

By H. Firth, S. Richards, A. P. Bevan, S. Clayton, Manuel Corpas, D. Rajan, S. V. Vooren, Yves Moreau, Roger Pettett, N. Carter. American Journal of Human Genetics, 2009

1,894 citations recorded by the source corpus.

Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotype-phenotype correlations uncertain. Identification of patients sharing a genomic rearrangement and having phenotypic features in common leads to greater certainty in the pathogenic nature of the rearrangement and enables new syndromes to be defined. To facilitate the analysis of these rare events, we have developed an interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations. DECIPHER catalogs common copy-number changes in normal populations and thus, by exclusion, enables changes that are novel and potentially pathogenic to be identified. DECIPHER enhances genetic counseling by retrieving relevant information from a variety of bioinformatics resources. Known and predicted genes within an aberration are listed in the DECIPHER patient report, and genes of recognized clinical importance are highlighted and prioritized. DECIPHER enables clinical scientists worldwide to maintain records of phenotype and chromosome rearrangement for their patients and, with informed consent, share this information with the wider clinical research community through display in the genome browser Ensembl. By sharing cases worldwide, clusters of rare cases having phenotype and structural rearrangement in common can be identified, leading to the delineation of new syndromes and furthering understanding of gene function.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

The UCSC Genome Browser database: update 2011 (2010, methodology): “The ﬁrst is based on DECIPHER, a database of submicroscopic chromosomal imbalances based on clinical information about chromosomal microdeletions/duplications/insertions, translocations and inversions (25).”
The UCSC Genome Browser database: 2021 update (2020, background): “This is useful when visualizing large chromosome imbalances in tracks such as DECIPHER (38) or ClinVar CNVs (5), which have data across many megabases of DNA.”
The UCSC Genome Browser database: 2023 update (2022, neutral): “Some notable examples include DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using En-sembl Resources) (13), which aggregates variant information from various sources, added to hg38; Orphanet (14), which provides comprehensive datasets related to rare diseases and orphan drugs from ”
The UCSC genome browser and associated tools (2012, background): “Examples of this type of track include probe sets for commercially available microarrays, human copy-number variation (CNV) data from the Database of Genomic Variants (DGV) [25]; human dismorphology data from DECIPHER [26]; expression data for mouse and human from the GNF Expression Atlas [27]; and ”
The Database of Genomic Variants: a curated collection of structural variation in the human genome (2013, background): “These include the DECIPHER genomic disorders and consented patient data (19), and data sets from the ISCA consortium (23,24).”
Characterising and Predicting Haploinsufficiency in the Human Genome (2010, methodology): “We calculated a LOD score for each of 487 pathogenic de novo deletions submitted by clinical geneticists to the DECIPHER database [18].”
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010, positive): “Correlation of clinical phenotypes with specific genomic rearrangements requires databases that include data from individuals with DD/ID or MCA and is exemplified by the interactive web-based database DECIPHER, which incorporates a suite of tools designed to aid in the interpretation of submicroscop”