Scientists from Human Genome Structural Variation Consortium (HGSVC) utilized the most advanced gene sequencing and mapping technology, computational biology and bioinformatics to perform high-resolution sequencing and systematic analysis on 64 human genomes representing 25 different populations around the world, identifying multiple structural variations in normal human genomes that had not been reported before. Relevant research results were published in the international top-notched academic journal Science on February 25, 2021. Professor Charles Lee, Chief Scientist from Research Center for Precision Medicine of the First Affiliated Hospital of Xi 'an Jiaotong University (XJTU), is the co-corresponding author of this article.

In 2001, HGSVC published the first draft of human genome reference sequence. This project, also known as Human Genome Project, was jointly completed by over 1000 scientists from 40 countries for more than 11 years. In recent years, scientists have discovered an array of larger and more complex structural variations in the normal human genome by using cutting-edge gene sequencing and mapping technologies, as well as computational biology and bioinformatics tools including large gene insertions, deletions and chromosome translocations,etc. A series of achievements in the study of human genome structural variations will play a critical role in the fields of human evolution, disease susceptibility, new drug research and development, clinical diagnosis and precision medicine,etc.

The Jackson Laboratory is an independent, non-profit biomedical research institution consisting of a cancer center designated by National Cancer Institute in the U.S., Genomics Medicine Institute in Farmington in Connecticut, and multiple facilities located in Ellsworth and Augusta in Maine, Sacramento in California, Beijing and Shanghai in China. The mission of Jackson Laboratory is to explore accurate genome solutions for diseases and enable the global biomedical community to jointly seek to improve human health.

Professor Charles Lee is an internationally renowned expert in the field of genomics research. Currently, he is a Professor and Director of Genomics Medicine Institute in Jackson Laboratory, and Chairman of Human Genome Organization (HUGO), making significant contributions to the research on structural variation and function of human genome and the development of precision medicine. On November 12, 2018, our hospital signed a formal agreement on the international cooperation project with the team led by Professor Charles Lee to jointly establish Research Center for Precision Medicine of the First Affiliated Hospital of XJTU. In the past two years, bilateral sides have successfully completed the construction tasks of scientific research platform of Precision Medicine Center Laboratory. This center has established world-class research platforms and teams in the fields of multi-omics (genomics, transcriptomics, proteomics and metabolomics), patient-derived organoids (PDO) culture, patient-derived tumor xenograft (PDX) model, single cell sequencing analysis, genome-wide chip, bioinformatics and computational biology. It has provided comprehensive technical support and services for our hospital.