Biopharma / Research Service
Whole Exome Sequencing
Whole Exome Sequencing (WES) is an advanced DNA Sequencing method that provides a comprehensive view of and individual’s exome. The exome corresponds to around 1-2% of the genome, and it comprises all the protein-coding genes within the genome (approximately 22,000 genes). WES can identify a wide range of genetic variations, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variations (CNVs), and structural variations involving the exons. This level of detail is crucial for understanding the genetic basis of diseases and traits.
Service Details: Whole Exome Sequencing
What is included?
DNA Extraction (if applicable)
Initial DNA QC
Library Preparation
Sequencing
Alignment and variant calling
Data Delivery
Technical Specifications
Library Preparation Kit: Illumina DNA Prep with Enrichment
(Twist Bioscience for Illumina Exome 2.5 Panel)
Sequencing Platform: Illumina NovaSeq 6000
Read Type: Paired-end
Read Length: 2x150 bp (300 cycle)
Sequencing Depth: Total mean coverage of ~100X
Deliverables
Initial DNA QC Report (.pdf)
Raw data file (.fastq) (available upon request)
Alignment file (.cram) (BAM file available upon request)
Variant file (.vcf)
Sequencing QC Metrics Report (.pdf)
Turnaround Time
2-3 weeks for a batch of up to 96 samples
Sample Requirements
For detailed information about the sample requirements for our Whole Exome Sequencing service, please consult our sample requirements page.
Why Choose Our Whole Exome Sequencing Services?
Why Choose Whole Exome Sequencing?
Applications of Whole Exome Sequencing?
Service Workflow: Whole Exome Sequencing
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