Human Variant Genome Project (HVGP) — — Complement of the Human Genome Project（HGP）

If you are curious about what constitutes the human species, you would have probably heard of the Human Genome Project (HGP). This project is an international collaborative research program with the end goal of revealing the sequence of nucleotide base pairs that make up the human DNA and of identifying and mapping all the genes of the human genome from both a physical and functional perspective [1]. All of our genes combined together is known as our “genome”.

Why do we say that the HVGP is an effective complement to HGP? The answer starts with the nature of human genome. It is discovered that about 99.5 percent of one person’s DNA is the same as any unrelated individual’s DNA. The differences in the sequence of DNA amongst individuals are referred to as genetic variation. From this, it is apparent to us as to why HGP could not bring more benefits to human beings, although it does create a solid foundation for researchers and scientists to explore it further. In this case, HGP is waiting for a breakthrough and the answer could be through a joint effort with HVGP.

The current research on genes has experienced drawbacks. Although HGP has almost discovered all genes in a human being, the genome revealed is not specific to the individual but is a mix of several individuals, so therefore, it is not practical for this kind of data but just supplying us with background information for the purposes of education and research. Furthermore, about 99 percent of variants with a frequency of 1 percent or higher have been found, with a false detection rate of 5 percent. If we want to carry out the precision medicine the accuracy rate should be further improved. However, from the Genetic Variation Program, we have achieved an outstanding accomplishment, for example, about 96 percent of the genome can be studied with high confidence, more than 80 million variant sites in the genome have been found so far, including single nucleotide polymorphisms (SNPs), insertions and deletions (indels), and other structural variants [2].

Confronted with tons of data from the HGP and HVGP, how can we deal with large amounts of information effectively, precisely and securely? How can we uncover the useful clue with just this ZiBs or even YiBs data? This is where X Genomics steps in to make an effort. Combined with the cutting-edge blockchain technique, which can secure and encrypt gene data, we intend to set up the largest genetic data ecological chain and a genome data hub across the entire global. If you want to know the relationship between HGP, HVGP and X Genomics, please refer to the following figure.

From the outset, researchers and scientists have already recognized the momentous implications of individuals in society for possessing detailed genetic information made possible by the HGP. Thus, another major component of the HGP is devoted to the analysis of ethical, legal and social implications (ELSI) of the newfound genetic knowledge. In order to protect the security and privacy of the individual who supplies the genome data, X Genomics applies blockchain technique to decentralize the genome data storage, which is resistant to data tampering and at the same time makes the human genome data accessible and ready for public sharing. The genome data user and the genome data supplier can both benefit from this platform without concern regarding the potential tampering or leaking of data information. X Genomics aims high as to mine the huge genetic database and maximize the value of genetic data on the blockchain platform for the human variant genome.

Speaking of this, some may wonder why the human variant genome is so important. As we mentioned earlier, genetic variation can tell us information regarding the differences amongst individuals, such as blood type, hair color, and whether an individual is more vulnerable to having particular diseases, such as diabetes, heart disease, cancer, stroke, Alzheimer, Parkinson , depression, arthritis, and asthma. However, even with the assistance of information technology, it is impossible to spot the 0.5% percent variants in the human genome.

With this concern in mind, the design of the X Genomics blockchain is to offer world-class blockchain infrastructure, industry solutions, and secure, reliable, and flexible blockchain services to genetic research partners. It would greatly reduce the overall cost and expense for gene technology with the improved operational efficiency through using blockchain services. The difficulties encountered by traditional gene technology can be solved perfectly with X Genomics.

In summary, with X Genomics, HVGP will supply an enterprise-level solution for the following problems relating to the genome data industry:

First, since the decentralization, openness, and transparency of the blockchain, the genome data is guaranteed to be stored and utilized in a secure and efficient way, resistant to tampering and cracking, the security and privacy of the genome supplier are ensured, and the value of the genetic data is guaranteed.

Next, on the basis of the fact that blockchain has the characteristics of being decentralized, open and transparent, genetic services can be optimized, and when in combination with other techniques the genetic data analysis and collaboration system could be unified and standardized.

Lastly, the HVGP service platform, as a data hub, can assist the user to access personal medical data, medical information and real-time data information acquired from the wearable device with its large amount of information stored. The above-mentioned data, once being combined with their personal genetic data analysis, will enable the gene doctor to provide clients with customized health management.

[1] https://www.genome.gov/12011238/an-overview-of-the-human-genome-project/

[2] https://www.genome.gov/10001551/genetic-variation-program/

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