Recently, the research about the whole genome sequencing of the biggest population was published in Nature. It described the source and the application of the data.
The rare variant is the transformation carried in DNA. It is not common, but important to many diseases. To find out the relationship between rare variants and disease and health, this research was started.
This research is the consequence of the UK10K project. It’s a big project which contains nearly ten thousand participants. The whole genome sequence data contains both health people and people with all kinds of disease such as rare genetic disorders in families, and common diseases like obesity, infantile autism and schizophrenia. In normal populations, the researchers studied 64 kinds of risk factors such as blood pressure and cholesterol. By analyzing the data of sequencing, researchers collected much information about rare variants and disease, and they also found some new genes which related to disease.
What is the significance of this study?
Firstly, it provides a big data base for our further studies. To do whole genome sequencing in such huge amounts needs great amounts of money and researchers. Usually we analyze the differentiation between individuals just in a small group of people. Only government can centralize the research source and finish this project. However, this will be helpful and benefit for many researchers. If their research need relevant information, they do not need to spend money on this process by themselves.
Secondly, it will contribute a lot to the health care of individuals in England. Almost ten thousand people can know their health condition and potential diseases from the result of sequencing. If those data are well taken advantage by health center, it will be much easier for diagnostic and treatment of some patients.
Finally, the analysis of those data provides a foundation for further research on the relationship between rare variants and diseases. Researchers can do deep studies based on this study. There are still unknown things for our research. This is just a first step. However, it has done the most complex work. The things left are more simple.