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genetron health

Cancer whole exome sequencing (WES)

Whole exome sequencing is a technique that uses probe hybridization to enrich exon regions of DNA sequences. High-throughput sequencing technology following exon enrichment identifies genetic mutations associated with protein dysfunction. Compared with whole genome sequencing, WES is more cost-effective and efficient.

Technological highlights:

1) Direct sequencing of protein-coding sequences to identify variations that affect protein function.

2) In-depth sequencing that can identify both common variations and rare variations with frequencies lower than 1%.

3) Exome sequencing, which accounts for only 1% of the genome, effectively reduces the cost and turnaround time.

Technical specifications:

• Sample requirement

Sample types: DNA samples;

Sample amount: >=1.0 ug DNA (extracted from fresh or frozen samples);

>= 1.5 ug DNA (extracted from FFPE samples);

Sample concentration: >=20 ng/ul;

• Capture platforms: Agilent SureSelect Kit;

• Sequencing strategy: HiSeq PE150;

• Sequencing depth: tumor carcinoma tissue (200 x), normal tissue/blood samples (100x),

• Turnaround time: 42 days.