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

ABSTRACT: 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 su

SUBMITTER: Firth HV 

PROVIDER: S-EPMC2667985 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature