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During the last 5 years, genomic microarray technology has been developed and is now used by clinicians to analyze submicroscopic chromosomal deletions and duplications. This technology has helped identify previously unknown causes of mental retardation and multiple congenital anomalies. However, wide variation in copy-number changes in the normal human genome makes interpretation of molecular results challenging.
DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) is an interactive web-based database developed primarily for clinical geneticists to collect rare cases and establish submicroscopic deletion or duplication phenotypes. The database links information from genetic and medical databases, the …