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Disease >> Exome/Target Region Sequencing


Exome sequencing

Exome sequencing is an innovative technique which selectively sequences the coding regions of the human genome. Exome constitutes about 1% of the human genome (~30Mb) and contains the most functionally relevant DNA sequences that are translated into protein. Exome sequencing can be used to identify novel genes associated with rare and common disorders such as Cancer, Diabetes and Obesity.

Target region sequencing

Target region capture means enriching specific chromosomes (e.g., Y chromosome), specific regions (e.g., HLA region,MHC region) or specific genes, by microarray hybridization (NimbleGen Sequence Capture Array) or solution hybridization (Agilent Sure-Select™ system) based on probes designed according to the sequences of interested regions.

Experimental Pipeline

Agilent SureSelect System

NimbleGen Capture Array

Pipeline of Bioinformatics Analysis

Bioinformatics Analysis

Production of consensus sequences
SNP&InDel detection, annotation and statistics
Candidate genes or SNPs associated with disease
(Control sample VS Case/Control information should be provided)
Personalized analysis according to specific requirements


Identification of the causative gene of Mendelian disorder
Discovery of susceptibility genes for complex diseases
Detection of tumorigenic mutations in cancers


Target region sequencing

Most diseases-related variations locate in exons
Capture both common and rare variation
Highly cost-effective to Sequence 1% of human genome

Exome sequencing

Focused and in-depth investigation on genetic variants of interest
Faster turnaround time to accelerate publication & application
Suitable for larger sample size with high throughput
More cost effective than PCR
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