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Whole Exome Sequencing

Whole Exome sequencing provides a cost-effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants. Whole Exome Sequencing is mainly used to study the evolution of coding protein function variation and population studies of genetic mutations. Compared with Whole Genome sequencing, data accuracy is much higher, more economical and efficient.


Sequencing Strategy
1.HiSeq X platform, paired-end 150 bp
2.Recommended Sequencing Depth:50~100X
   For Mendelian disorder/rare disease: effective sequencing depth above 50X
   For tumor sample: effective sequencing depth above 100X


Exome Capture

Agilent SureSelect Human All Exon V5/V6 Kit

Sample Requirements

1.DNA amount: ≥ 2 μg
2.DNA concentration: ≥ 20 ng/μl
3.Purity: OD260/280 = 1.8 - 2.0 without degradation or RNA contamination

Turnaround Time
35 working days

List of Analyses
1.Data quality control
2.Alignment with reference genome, statistics of sequencing depth and coverage
3.SNP/InDel/SV/CNV calling, annotation and statistics
4.Somatic SNP/InDel/SV/CNV calling, annotation and statistics (paired tumor samples)