The Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources
Morning Session, 2 September (11th MGED Meeting, 1-4 September, 2008)
Genomic disorders, e.g. Down's Syndrome (3 copies of chromosome 21). Need genome-wide methods to look for smaller changes than those that are more obvious in Down's Syndrome (submicroscopic chromosome imbalance. Use Array-CGH (two different chromosomes in different fluorescence colors). Then you can go from knowledge of which syndrome it is to what the genetic abnormality associated with it (e.g. a deletion). But what do you do when you cannot determine the syndrome from the phenotype? How do we know that such a deletion is what is actually causing the disease? Try to find a second patient with the same deletion and see if they have the same pheonotype. Normally need three instances of the phenotype with the same genotype to have enough information to be published.
They need a way to figure out if there are other people with the same pheonotype and genotype elsewhere than in the local area. This is what Decipher is for – useful for describing new and existing syndromes. With informed consent, the data is put into Ensembl and is publicly visible.
Decipher allows genomic data upload, phenotype entry, copy number interpretation, gene prioritization, and cluster view.
These are just my notes and are not guaranteed to be correct.
Please feel free to let me know about any errors, which are all my
fault and not the fault of the speaker. 🙂