Whole Exome Sequencing (WES)

 

Description

Exome sequencing refers to a genome analysis method utilizing sequence capture technology to selectively capture exomes within the coding regions of the human genome, followed by target fragments enrichment and high-throughput sequencing. Through this method genetic information merely from the exome regions plus 200 bp (both upstream and downstream) can be acquired, which dramatically increased the research efficiency of protein coding regions within human genome and significantly reduced the cost of research. Exome sequencing is mainly applicable to investigate complex diseases and Mendelian disorders caused by potential variations within coding regions. It is especially contributable for the research of disease-associated rare mutations. With the help of large numbers of public databases, the obtained variation results can be more convincingly interpreted.

 

Note:

We now offering a 10-day rapid delivery whole exome sequencing service from our CAP/CLIA certified laboratory to meet the needs of both academic and clinical research users where rapid delivery of results is paramount. Besides raw sequencing data output, BGI also offers standard and custom bioinformatics services to suit specific research needs.

 

Sample Preparation and Services

  • Agilent Sureselect or BGI or IDT xGen exome kit for library construction and enrichment, 100/150bp paired-end sequencing options available.
  • Clean data and advanced bioinformatics analysis are available in standard file formats
  • Standard and custom bioinformatics data analysis.

 

Key Service Details

Reports and output data files are delivered in industry standard file formats: BAM, .xls, .png and FASTQ data.

 

Sequencing Quality Standard

  • 100bp and 150bp paired-end sequencing options available.
  • Guaranteed ≥ 80% of bases with quality score of ≥Q30.
  • Standard sequencing coverage ≥100X; ≥200X is recommended for cancer samples.

 

Sample Requirements

Regular Samples

- Intact genomic DNA: ≥ 1µg.

- Concentration: ≥ 12.5 ng/ µl.

- Volume: 15 μl.

 

Low Input Samples

- Genomic DNA: ≥ 100 ng.

- Concentration: ≥ 2.5 ng/ µl.

- Volume: 15 μl.

 

Turnaround Time

  • Typical 30 working days from sample QC acceptance to data availability.
  • 10 days for rapid delivery service.
  • Expedited services are available.