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.
Whole exome sequencing (WES) is the most frequently used genome sequencing method. The exome is the protein-coding region of human genome, and its DNA can be captured and enriched. Although the exome region is less than 2% of the whole genome, it contains the majority of pathogenic mutations. Whole exome sequencing is more cost-effective than whole genome sequencing. Whole exome sequencing is mainly used to study the coding region related to disease, population evolution and the structural variation in UTR region. The exome data provided by a large number of public databases can be used to explain the association between variations and pathogenic mechanisms. BGI,the world's leading exome sequencing service provider has sequenced more than 130,000 exome samples. Since the first exome sequencing paper was published in 2010, 205 papers have been published, including 49 papers on tumors, 94 papers on rare disease and 43 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.
Target region sequencing focuses on a subset of genes or specific regions of the genome. Targeted gene capture combined with NGS has the advantages of significant cost savings, higher sequencing accuracy due to deeper coverage, and a smaller data set for easier bioinformatics analysis. Target region sequencing enables population studies and routine clinical applications. Target region sequencing can be used to validate candidate loci or candidate genes and susceptible loci in candidate regions, which is applicable for gene association analysis.
Single cell sequencing can detect the genetic and mutation information of single cell from DNA, RNA and epigenetic level.
A) Single cell DNA sequencing
B) Single cell RNA sequencing
C) Single cell whole genome methylation sequencing
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.