Whole genome sequencing can be applied to human genetics and evolution studies to detect genome-wide genetic variations, pathogenic and susceptibility genes, and to enable genetic diversity and evolution analysis. With the development and popularization of next-generation sequencing technology, whole genome resequencing has become one of the most rapid and effective methods for human genetics, transformational medicine and population evolution. It can detect genome-wide gene variations and structure variations, including SNP, Indel, CNV and SV.
The exome is the protein-coding region of the human genome. Although the exome region is less than 2% of the whole genome, it contains the majority of pathogenic mutations and whole exome sequencing therefore presents a cost-effective strategy for studying disease, population evolution and the structural variation in the UTR region. Exome data provided by a large number of public databases can be used to explain the association between variations and pathogenic mechanisms. BGI, as one of the world's leading exome sequencing service providers, has sequenced more than 160,000 exome samples. Since the first exome sequencing paper was published in 2010, 223 papers have been published, including 65 papers on tumors, 98 papers on rare disease and 50 papers on complex disease. BGI is first author on 95 articles, and the first and correspondent author on 53 articles. There are 45 papers with an influence factor of >10.
Single cell sequencing technology has experienced more than ten years of development, and has undergone many technological advances and breakthroughs. Single cell research can carry out single cell multi-omics genetic and mutation analysis from DNA, RNA, and Epigenomics. High-throughput single cell sorting and sequencing technology can easily obtain relatively accurate genetic information in order to undertake intercellular heterogeneity analysis, reorganization of cell groups, discovery of rare cell groups and much more. BGI can provide single tube single cell DNA and RNA research, and high-throughput single cell research products based on 10X Genomics and DNBelab C4 technology.
T / B cells are the major cell populations of the adaptive immune system. The cell surface receptor TCR/BCR has a region called the Complementary Determining Region (CDR), which contains CDR1, CDR2 and CDR3. CDR3 plays a key role in antigen recognition. BGI immune repertoire sequencing analyzes the DNA / RNA sequences encoding CDR3 region using multiple PCR and high throughput sequencing techniques, which can obtain the immune characteristics, evaluate the diversity of the immune system, and explore the relationship between immune repertoire and disease.