More immediately, the technique will enable clinicians to better assess a person's individual risk for disease, a cornerstone of personalized medicine. For instance, people at risk for a disease such as cancer often have more than one DNA mutation. HaploSeq could enable clinicians to determine if the two mutations are on the same chromosome or on different chromosomes, which can help in risk assessment for instance, risk may be reduced if two mutations are on the same chromosome, since the 'good' chromosome can often compensate.
Similarly, the method, with further honing, has the potential to refine the currently cumbersome process of determining whether there is a genetic match between an organ donor and recipient. A large number of genes contribute to compatibility between donor and recipient, but there is a lot of genetic variability in these genes. The new technique could help determine whether DNA differences between donor and recipient are likely to be a good match. "This will require more study," says Ren, "but by creating a DNA database, it may be possible to more accurately and expediently pair recipients and donors."
The new method will also help researchers analyze human migration and determine ancestry from their DNA sequences. "In principal," says Ren, "you could compare your genetic sequence to your neighbor's and ask if you have any recent ancestors in common. With our technique we can study each individual and how they relate to other individuals. As we accumulate data from many individuals we can more precisely determine their relationships." Such findings will also bolster an ongoing international project to assess worldwide human genetic variation, the HapMap project.
One advantage of the new technique is that it builds on common sequencing technologies and should be easil
|Contact: Rachel Steinhardt|
Ludwig Institute for Cancer Research