Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Welcome to Information Overload
February 16, 2009
Daniel MacArthur at Genetic Future has a post about whether there will be value in sequencing the full genome of each newborn in the next decade. "There are plenty of very rare, severe disease mutations that would be clinically useful to detect at an early stage," he writes. "Secondly, pharmacogenomics is finally coming of age." He notes that advances from GWAS have begun to make the PGx field more viable, citing abacavir and statins as examples of drugs that can be kept away from patients who will have major adverse reactions "by typing a single genetic marker."
The virtuous circle of more
The virtuous circle of more data spawning more applications leading to more and better data collection methods is now running at full steam.. what comes next is .. inevitable. In twenty years all diagnosis from herpes to hemorrhoids, duchenne's to diarrhea, breast cancer to broken bones in the elderly will require a genome sequence to look for genetic factors. This will be driven by insurance costs and the fear of missing something, and the more precise use of expensive treatments. There are some emerging new techniques such as the one used by Complete Genomics that makes whole genome sequencing practical.
stay tuned! CSI in your doctor's office?
( where will the software come from... hummm...)