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

被引:1419
作者
Firth, Helen V. [1 ]
Richards, Shola M. [2 ]
Bevan, A. Paul [2 ]
Clayton, Stephen [2 ]
Corpas, Manuel [2 ]
Rajan, Diana [2 ]
Van Vooren, Steven [3 ]
Moreau, Yves [3 ]
Pettett, Roger M. [2 ]
Carter, Nigel P. [2 ]
机构
[1] Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England
[2] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England
[3] Katholieke Univ Leuven, ESAT SCD, B-3001 Louvain, Belgium
基金
英国惠康基金;
关键词
COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DELAY; COPY NUMBER; ARRAY-CGH; MICRODELETION; MUTATIONS; DELETIONS; GENE; DUPLICATIONS; REARRANGEMENTS;
D O I
10.1016/j.ajhg.2009.03.010
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 trans-locations. 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.
引用
收藏
页码:524 / 533
页数:10
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