Disease Research
Monogenic
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.
Complex
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 |
| Cancer Gastric Cancer, Liver Cancer, Colorectal Cancer etc. |
DNA Level Exome sequencing RNA Level Epigenetic Level Metagenetic Level |
Disease genetics Pathogenetic gene discovery, susceptibility gene screening, epigenetic regulation |
| Metabolic Syndromes Diabetes, Hypertension, Cardiovascular Disease etc. |
Population genomics Genotyping |
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| Neurodegenerative Disease Schizophrenia, Alzheimer’s Disease etc. |
Pharmacogenomics Drug sensitivity variation, drug development |
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| Other Viral hepatitis, nephropathy etc |
Personal genomics Disease diagnosis, personalized medicine |