Exome sequencing-Wuhan Biobank Co., Ltd.

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Exome sequencing

Product Description

Case Analysis

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Sample Submission Guidelines

Q&A

Whole Exome Sequencing (WES) refers to the use of sequence capture technology to capture and enrich DNA from exome regions for high-throughput sequencing, which can directly identify genetic variants associated with protein function variation. Exome sequencing has been applied to the search for disease-causing and susceptibility genes associated with a variety of complex diseases.

technology roadmap

technical parameter

Sample requirements

Sequencing strategy

Lead time

Sample type: genomic DNA

Total sample concentration: ≥20 ng/μl (Qubit quantification)

Total sample mass: ≥3.0 μg (total of 3 times of library building, excluding consuming of sample assay, Qubit quantification)

Sample purity: OD260/280 =1.7~2.2

Electrophoresis requirements: clear main band, no degradation or mild degradation, no serious RNA or protein contamination. (latest electrophoresis result of the sample delivery date)

Sequencing type: Illumina/MGI PE150.

Sequencing depth: germ cell mutations ≥ 100X (10G).

Somatic mutations ≥150X (15G)

45 days

Product advantages

a. High specificity: Use mainstream kit, have stable capture efficiency, comprehensive exon region coverage and high capture specificity;

b. Cost-effective: comprehensive functional annotation of exon regions, which can effectively identify disease- or trait-related regions and save research costs;

c. High information efficiency: Compared with whole genome sequencing, it has deeper coverage and better data precision, less interference information and easy to analyse.