Saw this one at Greg Laden's blog. Thought I'd share it...
Archive for March 28th, 2008
Roald Forsberg sent me this link: Study Finds Wide Range of Rare Mutations Linked to Schizophrenia. It is a summary of the paper
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia Walsh et al. Science DOI: 10.1126/science.1155174.
I haven't read the paper yet, but I should.
According to the GenomeWeb link, the study shows that schizophrenia associates with an enhancement of rare mutations. This is interesting, since the association mapping approaches we use to detect disease / genotype association are almost all relying on the "common disease / common variant" assumption that says that if a disease is common in the population, then the genetic component of it will mainly be from a few common genetic variants. How true this assumption is, we do not know. It is not completely false, 'cause we have found gene/disease association with our methods (and we wouldn't have if our assumption was false), but we have found less than we had hoped and rare mutations might be the reason behind this. (Another reason could be gene-gene and gene-environment interaction).
This morning I am reading Among Orangutans, a book recommended on the orangutan genome project mailing list. It is not a genetics or bioinformatics book by any stretch, but I got to bed too late yesterday so I am feeling a bit tired and stupid in the morning, and this seemed like some light reading while I had my morning coffee.
It is a good book (judging from the first few chapters) and for someone like me, who thinks of animals as DNA sequences to be analysed, it gives an interesting other view on these fascinating creatures.