Thousand-person genome project locks in high-precision genetic variation map

an international collaboration of scientists from China, the United Kingdom and the United States has also announced the launch of the International Human Genome Project in Shenzhen, London and Washington, D.C., which will eventually result in a highly accuratemap of genetic variation covering the entire human genometo help researchers more quickly and accurately target genetic mutations associated withdiseaseAs the continuation and development of the Human Genome Project, the Thousand Human Genome Project will be an important turning point in the progress of genomic synodscience into clinical medicineOriginal intention: to understand the differences between different groups of people
"any two people at the genetic level of more than 99% is the same, only a small number of genome sequences vary from person to person." Understanding these differences can help us understand the differences in human susceptibility todiseases, and how responsive they are to drugs and environmental factorsDrYe Wei of the Huada Gene Research Institute in Shenzhen told the Science TimesIn recent years, a large number of epidemiological studies have shown that there are significant differences between the incidence of certaindiseasesethnicityFor example
the incidence of hypertension among Caucasians is 5% to 7%, while in blacks it can be as high as 20% to 30%, with the lowest yellow population The incidence of hypertension of hypertension varies greatly among ethnic groups in China But where does this difference come from? The study found that at least 99.99 percent of the base pairs in different human genomes were the same, with a difference of less than 0.01 percent But the change in a single base pair in the DNA chain, known as "single nucleotide polymorphism," determines not only whether people are susceptible to certain diseases, but also differences in height, skin color and size between races Scientists know little about the relationship On April 14, 2003, the Human Genome Project, known as the Life Sciences Moon Landing Project, with the participation of scientists from the United States, the United Kingdom, Japan, France, Germany and China, completed the sequencing of the key sequence of human genome DNA consisting of 3 billion base pairs Researcher Zhao Guoping, a member of the Chinese Academy of Sciences and executive director of the National Center for the Southern Research of the Human Genome, said that the completed human genome map (sequence) of five individuals from different species, is a reference map In order to apply health and medical applications, the scientific community must understand the sequence differences between different types of populations and the correlation between these differences and health and diseases, until it is finally understood how these differences act to the epitope "In 2007, sequencing technology made a big breakthrough, the sequencing capacity increased hundreds of times, and the sequencing cost decreased by hundreds of times, " Ye said with emotion The father of DNA, James Watson, and genomics pioneer J Craig Venter's personal genome map, as well as the first Chinese genome map of Yan Huang 1, was completed All of this work laid the foundation for a thousand-person genome project "
goal: A high-precision genetic variation map current data on human genetic variation, such as the Human Genome HapMap, has proven valuable for human genetic research Using haplograms and related data, scientists have identified more than 100 genomic regions associated with common diseases in humans However, because the existing maps are not sophisticated enough, researchers often need to further pinpoint the disease-causing genes and their variants through expensive and time-consuming DNA sequencing The new map, created through the Thousand Human Genome Project, will allow researchers to target disease-related genetic mutations more quickly, allowing researchers to use this genetic information to develop new strategies for the diagnosis, treatment and prevention of common diseases more quickly " The goal of the program is to finally obtain a map of genetic variation in the genome, which is highly accurate and almost cover almost all of humanity, to provide basic information on human genetic variation for the study of specific diseases in humans Ye said The so-called Thousand Human Genome project does not only sequence the genomes of 1,000 people, but rather the genomes of more than 1,000 people The first is to sequence the genome map of the individual, to understand the whole genome, and then to carry out a large number of individual genome comparative analysis According to Ye, the first phase of the Thousand Human Genome Project will take about a year to conduct three pilot pilot projects, the results of which will be used to determine how to efficiently and cost-effectively map the human genetic differences The first pilot pilot project will include genome-wide depth sequencing of two core families (parents and one adult child), with an average sequencing depth of 20 times each genome, or 20 repeated measurements The comprehensive and detailed data sets produced by these six individuals help determine how the program can use the new sequencing platform to identify genetic variations This is both an exploration of the individual genome mapping methodology and will serve as a basis for comparison of other projects throughout the program The second pilot experiment sequenced 180 individuals in shallow terms, with an average depth of twice that of each genome This will be used to test the ability of shallow sequencing data from new sequencing techniques to detect and locate sequence variations The third pilot pilot project will sequence 1,000 coding regions (also known as exons) of 1,000 people, with the aim of exploring how to better obtain a more detailed map of protein-coding genes that account for about 2% of the genome The sequencing of the Thousand Human Genome Project will be carried out by the Sanger Institute in the United Kingdom, the China Huada GeneticS Institute in China, and the Large-scale Sequencing Platform of the Human Genome Institute (NHGRI) of the United States, including the Broad Institute, the Center for Genome Sequencing at the University of Washington School of Medicine and the Human Genome Sequencing Center at Baylor College of Medicine "This is a major international cooperation project, Shenzhen Huada Genetic Research Institute as one of the main undertaking units, the existing cooperation units have bio-information systems National Engineering Research Center and the Chinese Academy of Sciences Beijing Genomics Research Institute, hope that more and more research institutions to participate," Ye said "
: Efficient and low-cost sequencing technology
in 1990, congress formally approved the Human Genome Project The Human Genome Project took 13 years and cost about $3 billion, during which more than 1,100 biologists and computer experts from 16 laboratories in six countries participated in the largest scientific research in human history " The thousand-person genome project was so ambitious two years ago that it was now possible to start thanks to the development and technological advances in disciplines such as sequencing, bioinformatics and group genomics Ye said Ye told reporters that in the "Yan Huang 1" work to overcome a lot of technical difficulties, while accumulating a lot of experience and methods For example, when the genome sequencing of "Yan Huang 1" was completed, Chinese scientists mastered and applied the next-generation sequencing technology as the basis of the individual genome map, and established a large number of follow-up analysis and stitching methods, which laid a good foundation for the genome project of thousands of people Although sequencing technology and costs are being significantly reduced, sequencing a set of personal genome maps is a luxury On May 31, 2007, James Watson, a Nobel Prize-winning American scientist known as the "father of DNA", became the world's first owner of a personal genome map, at a cost of $2 million "We're moving toward a $10,000 gene map and it's going to drop to $1,000 soon," said Jonathan Rothberg, founder and president of 454 Life Sciences, which has completed Watson's DNA sequencing "The Thousand Human Genome Project will use several new high-throughput sequencing platforms, and by building new, more efficient and lower-cost sequencing technologies, the cost of the program is expected to eventually be reduced to $30 million to $50 million and the time frame to three years "Although science and technology have made a big breakthrough, sequencing a person's genome will still be at a cost of 10 million yuan for the time being, " Ye said Hopefully, in the near future, as the cost of sequencing continues to decrease and the speed of work increases, each of us will have access to our own genome map, as easy as we go to hospital to take x-rays "
co-sponsored and participated in the International Thousand Human Genome Project, Shenzhen Huada Genetic Research Institute has also launched the "Yan Huang Project" in China to study the genetic variation of Chinese groups on a larger scale and map high-resolution Chinese genetic variation Following the release of the first high-quality genome map of the Chinese, "Yan Huang 1", the second phase of the "Yan Huang 99" project was launched, which will sequence the genomes and compare the genomes of 99 Chinese individuals The sequencing of Chinese samples completed by the Shenzhen Huada Genetic Research Institute in the Thousand Human Genome Project will be part of the Yan Huang Project (Lu Wei Pan Feng)