Filling the gap! The largest Chinese genomics big data results released[Copy link]
Recently, BGI published the largest-scale Chinese genomics big data research results to date in the world's top academic journal Cell. This is the result of an in-depth study of non-invasive prenatal genetic testing data of more than 140,000 Chinese people, led by Chinese scientists over a two-year period. Filling the gap in large-scale Chinese genomics research Genes are the code of life. National-level population genomics research and the protection and application of genetic resources are the foundation of precision medicine. The completion of large-scale research projects requires a long period of time. Project design, sample collection and gene sequencing require a lot of time and money. The rational use of existing data will greatly accelerate this process. In view of this, under the premise of strictly complying with the "Interim Measures for the Management of Human Genetic Resources" and the principles of bioethics, and paying full attention to informed consent and privacy protection, the BGI research team selected more than 140,000 non-invasive prenatal genetic testing data to carry out group-level research, and developed a series of analysis methods suitable for such data, revealing the precise genetic structure of the Chinese population, including 31 provinces and 36 ethnic minorities, completing genome-wide association analysis of multiple phenotypes, revealing the distribution characteristics of viral sequences in the Chinese population, and constructing a Chinese population gene frequency database (CMDB) containing about 9 million polymorphic sites, including about 200,000 newly discovered polymorphic sites. Xu Xun, the corresponding author of the article and dean of the BGI Life Science Institute, said that this achievement fills many gaps in the field of genomics research on a large scale of Chinese people, reveals a series of genetic characteristics unique to the Chinese population, and helps to promote the development of precision medicine in my country and accelerate the application of genetic technology in birth defects, cancer, infection and other fields. China has the ability to manage its own genetic resources. According to relevant persons in charge, this is the first time that a high-level international academic journal has agreed that the data used in genomic articles published in it only need to be stored in the Shenzhen National Gene Bank, without the need to back up to overseas databases. This means that international academic journals fully respect and recognize my country's genetic resource protection laws and policies, and also means that China has the ability and strength to manage and protect my country's important genetic resources, which is of great strategic significance to my country's genetic data autonomy. This study revealed the genetic characteristics of the Han and ethnic minority groups in China, and found that the distribution of genetic characteristics of the current Chinese population is also affected by historical factors such as the Silk Road and large-scale population migration in modern times. It is reported that more than 12 million cases of non-invasive prenatal genetic testing (NIPT) have been tested worldwide, and BGI alone has completed more than 3.5 million cases. The results published in Cell are an attempt by the BGI research team to study a large-scale population cohort. The research team developed analysis methods and algorithms suitable for such data, and hoped to establish a set of methods and strategies for omics big data research based on ultra-low depth sequencing data, further exert the value of NIPT data, and finally published the research results entitled "Non-invasive prenatal genomics research reveals genetic associations of multiple complex traits, viral infection patterns, and Chinese population history" in "Cell". Dr. Jin Xin, co-corresponding author of the article, pointed out that this result proved for the first time that NIPT data has great value and potential in genomics and population genetics research. The analysis strategy, algorithm and database established in this study have important demonstration and creative significance for the development of similar research in the future. On October 10, a press conference on this scientific research result will be held at the Shenzhen National Gene Bank to officially release this scientific research result. Han people in Gansu and Qinghai provinces have more European ancestry. The research team of BGI mainly revealed the biological discoveries in the Chinese population from three aspects: Chinese population genetics, whole genome association analysis of complex traits, and Chinese viral infection map. Among them, through this study, researchers found that the proportion of Europeans in the Han population in Gansu and Qinghai provinces is significantly higher than that in other provinces. This region happened to be the Hexi Corridor, a must-pass place on the Silk Road in ancient times, and was a gathering place for Chinese and Western people. This may have led to a higher European ancestry among the Han people in this region.
The Nobel Prize has nothing to do with this. The results of gene sequencing are not scientific discoveries or major technological innovations. They are just the specific application of existing technologies. Moreover, they are "hard work" that can be achieved with existing technologies and equipment and with enough time and money. The process can be achieved without any knowledge of molecular biology. As long as you have a grasp of the relevant knowledge, you can still obtain the results.
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Published on 2018-10-6 14:33
qwqwqw2088 posted on 2018-10-6 08:55 According to the title of the original poster, it is estimated that there will be a chance for the Nobel Prize next time
The Nobel Prize has nothing to do with this. The results of gene sequencing are not scientific discoveries or major technological innovations, but just the specific application of existing technologies. Moreover, it is "hard work" that can be achieved with existing technologies and equipment and enough time and money. The process does not even require any understanding of molecular biology. As long as you master the use of relevant instruments and materials, it is completely a hard work that does not require any brainpower. Sequencing technology itself is something completely different in nature. The Nobel Prize has been awarded for gene sequencing technology many times.
The analysis of gene sequencing results is a typical big data analysis. The essence of the data obtained from analyzing a huge sample size is very useful. For example, based on the gene research library data of Fudan University's molecular biological anthropology, you can now learn your "real identity" and where you come from, and the situation of your paternal and maternal ancestors for only a few hundred to a few thousand yuan. Based on the existing gene analysis results, the analysis of new genes only requires a small amount of feature sequencing to obtain the desired information. This is the significance of previous large-scale gene sequencing and big data analysis. Therefore, after the gene library is established, it only costs a few hundred to a few thousand yuan.
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