Disease Research

BGI brings extensive know-how and experience to the field of Human Disease Research as both an organization doing research and a provider of services to researchers around the world. Research in this area is moving from a traditional hypothesis-driven approach to a data-driven model due to the development of rapid sequencing technologies. Our knowledge, experience, technology-leading systems and advanced bioinformatics analysis capabilities makes us an ideal provider of the services to meet your needs.

Monogenic Disorders Research:

Mendelian, or Monogenic, diseases result from mutations in a single gene. Understanding the genetic basis for rare monogenic disease formation provides valuable knowledge about biological pathways. This understanding reveals potential therapeutic targets and to the design of effective therapies. Common approaches used to understand Mendelian diseases are BGI’s strengths.

  1. Exome Sequencing: Although protein-coding genes only constitute approximately 1% of the human genome, they harbor 85% of disease-associated mutations. Hence, exome sequencing is a highly effective way to study Mendelian disorders.
  2. Whole Genome Resequencing: Genomic variations that can potentially underlie disease states can be analyzed through comparison of the genome sequences of individuals or within populations. The ability of NGS to rapidly and cost-effectively re-sequence numerous human genomes allows large-scale comparative studies aimed at understanding how genetic differences affect health and disease to be performed.
  3. Targeted Sequencing: Targeted capture and sequencing of specific genes or gene regions across a population can be a very informative process in determining the relevance of a gene or region in a Mendelian Disorder.

Infectious Disease Research:

Next-gen Sequencing technology opens the realm of incorporating routine whole-genome analyses in the study of pathogenic bacteria, viruses and parasites for infectious disease research studies. BGI has both the expertise and leading platforms for pathogen genome sequencing and bioinformatics analysis. We have performed sequencing studies of many pathogenic microbes from single strains to population levels, some of which can be found in our humanitarian research work.

Complex Disorders Research:

Important diseases, such as many cancers, diabetes, obesity and hypertension are Complex Disorders that result from a web of interactions among multiple genes and environmental factors. BGI offers a variety of research strategies for complex disease study. Using our NGS technologies, you can study a disease at the DNA, RNA, Epigenetic, and Metagenomic level. We also offer solutions based on Next-Generation GWAS (which combines sequencing and genotyping to uncover novel causative genetic mutations). The wealth of data that you generate, coupled with disease-related clinical information, can lead researchers to a better understanding of disease pathogenesis and treatment.

For complex diseases, our offerings and their potential application to your research needs are listed below.

Scientific Research Endeavor Solution Technology
Identify susceptibility genes
Clarify the pathogenesis of disease
Next Gen-GWAS to study mutations of low-frequency to discover disease-related variants -Exome sequencing
-Genotyping validation
-Target region sequencing
-Sanger or MS validation
Identify and locate causative/susceptibility loci Array-based GWAS + Targeted Sequencing to discover disease susceptibility loci -Whole genome sequencing
-Target region sequencing
Identify small RNA differential expressions
Discover disease-specific biomarkers and drug targets
Small RNA sequencing to discover disease-related biomarkers -Small RNA sequencing
-qPCR validation
Study the regulatory role of histone modification in disease pathogenesis Histone modification study -ChIP-Seq
Profile DNA methylation to discover disease-related epigenetic changes DNA methylation study of human disease
Discover DNA methylation disease related biomarkers
-Bisulfite sequencing
Study the correlation between causative variants and gene expression changes, as well as construct a gene regulatory network Integrated study between genomics and transcriptomics -Whole genome sequencing
-Transcriptome sequencing
Estimate the heritability of gene expression, explore candidate genes and construct gene regulatory networks eQTL method to find candidate genes and construct gene regulatory network -Exome sequencing
-RNA Seq (Quantification)
-Whole genome sequencing
Identify differential methylation regions as biomarkers, and study the correlation between epigenomic and transcriptomic levels Identical twins study -Whole genome bisulfite sequencing
-Transcriptome sequencing
-RNA Seq (Quantification)
Study the differentiation mechanisms of embryonic and adult stem cells as well as induced pluripotent stem cells Stem cells research

-Whole genome bisulfite sequencing
-RNA Seq (Quantification)