Human Whole Exome Sequencing (WES)
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. Whether you are conducting studies in rare Mendelian disorders, complex disease, cancer research, or human population studies, Prism’s comprehensive human whole exome sequencing service provides a high-quality, affordable and convenient solution.
Overview of Service:
- State-of-the-art exome capture and sequencing:
- Agilent SureSelect Human All Exome V6 (58 M) is used.
- Accurate variant callingwith longer read length up to 150 bp.
ü Sequencing using HiSeq4000 platform, 150 PE
ü Unsurpassed data quality: Guarantee a Q30 score ≥80%
- Bioinformatics analysis:
- Data quality control
- Alignment with reference genome, statistics of sequencing depth and coverage;
- SNP/InDel, SV and CNV calling, annotation and statistics
- Somatic SNP/InDel, SV and CNV calling, annotation and statistics (only apply for tumor normal paired samples
- Fast turnaround time: Within 25 working days after verification of sample quality, additional 5 working days for data analysis
Recommended Sequencing Depth:
• For Mendelian disorder/rare disease: effective sequencing depth above 50× (6Gb)
• For tumor sample: effective sequencing depth above 100× (12Gb)
Prices: Depending on sequencing depth and the number of samples to be sequenced, the price is estimated to be $549 per sample.