Disease Research


Understanding the genetic basis for rare monogenic disease formation provides valuable knowledge about biological pathways and reveals potential therapeutic targets.

  • 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 an effective way to study Mendelian disorders.
  • 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 has allowed large-scale comparative studies to be performed aimed at understanding how genetic differences affect health and disease.


BGI adopts a variety of research strategies for complex disease study. Using NGS technology, one can study a disease at the DNA, RNA, Epigenetic, and Metagenomic level. And on the DNA level, we recommend protocols based on the Next-Generation GWAS.The wealth of data generated here coupled with disease-related clinical information (age of onset, treatment history, outcome, family history, susceptibility, etc.) can lead to better understanding of disease pathogenesis and treatment.

Complex Diseases Research Strategy Application Areas
Gastric Cancer, Liver Cancer, Colorectal Cancer etc.

DNA Level

Exome sequencing
Targeted region sequencing
Whole genome resequencing

RNA Level
Transcriptome sequencing
Digital gene expression profile
Small RNA sequencing

Epigenetic Level
Bisulfite sequencing
MeDIP sequencing
ChIP sequencing

Metagenetic Level
Metagenome sequencing

Disease genetics
Pathogenetic gene discovery, susceptibility gene screening, epigenetic regulation
Metabolic Syndromes
Diabetes, Hypertension, Cardiovascular Disease etc.
Population genomics
Neurodegenerative Disease
Schizophrenia, Alzheimer’s Disease etc.
Drug sensitivity variation, drug development
Viral hepatitis, nephropathy etc
Personal genomics
Disease diagnosis, personalized medicine