Now that small molecular-level deletions and subtle chromosomal rearrangements can be discovered using advanced cytogenetic techniques and microarrays, disorders whose causes had not previously been known can have their basis identified

Question

However, since most of these are not widely publicized, being individually rare, it has been difficult to identify patients with shared chromosomal abnormalities who share phenotypic features. A new database, known as DECIPHER, is now available to search for patients with like phenotypes and/or like chromosomal abnormalities. If you are the clinical geneticist who has a patient whose data is entered into this database, suggest three or more ways using this database can benefit your patient or your field in general.

Answer 1

Many patients suffering from rare disorders harbor submicroscopic deletions or duplications that affect the copy number of dosage-sensitive genes or disrupt normal gene expression. However, because these aberrations are extremely rare, the web-based database DECIPHER can be used to help identify submicroscopic chromosomal imbalance, inversions,
and translocations. DECIPHER also maps common SNPs found in normal populations, which is extremely useful for narrowing down the list of possible aberrations responsible for a given syndrome. DECIPHER also aids genetic counseling by retrieving relevant information from a variety of bioinformatics resources and can help link phenotypes to a particular chromosome rearrangement. By compiling information worldwide, rare cases that share phenotype and structural rearrangements can be linked together and cohorts can be used to aid with gene mapping. This will ultimately help with identification of new syndromes and furthering understanding of gene function by describing previously unrecognized syndromes.