Skip to main content

Whole Exome Sequencing

While the protein-coding region of the genome (i.e., the exome) represents only a small portion of the genome (less than 2 percent in humans), it is the most studied and best annotated. For example, the human exome contains approximately 85 percent of all known disease-related variants. Due to its cost effectiveness and better data manageability, whole exome sequencing (WES) offers an ideal approach when whole-genome sequencing is not practical or needed.

WES enables core users to focus their resources on genes that are most likely to have an impact on the phenotype or disease of interest. By scanning through the entire amino acid coding region of the genome, it leads to identification of relevant variants across a wide range of applications, including genetic diseases, cancer development and population genetics.

NUSeq uses a capture-based approach to target exome regions for sequencing. We use biotinylated nucleic acid baits, which are complementary to the target exome, to hybridize to genomic DNA libraries for the capture. For our WES, we only require 150 ng of high-quality human genomic DNA.

Exome Capture and Library Prep Pricing

Library prep costs are listed on the Core Pricing page.

Whole Exome Sequencing

 Sequencing Mode

Paired end 75 or 150 bp high- or mid-output runs are recommended for WES. Each high- or mid-output NextSeq run generates 800 million, or 260 million, paired-end reads, respectively. For run cost of the different sequencing options, please check our pricing structure.

 Service Request

Project consultation is provided free-of-charge. WES services can be requested through NUcore. Please finish and submit our project intake form when requesting service.

 Sample Submission

For WES, 150 ng of high-quality human genomic DNA is required. For DNA quantification, fluorometric-based methods, such as Qubit or PicoGreen, are preferred. Spectrophotometric-based methods, such as Nanodrop, may not be accurate.


Data analysis is provided upon request. Standard WES bioinformatics service for variant discovery includes sequencing data QC, alignment, and variant calling. Delivered results are variant call (VCF) files.

 Integrated WES Packages

NUSeq offers WES service packages for easy budgeting and cost projection. These bundled packages combine exome capture and library prep, sequencing and bioinformatics into one single price.

  • Bundle: WES In-A-Bundle
  • Deliverables: Standard analysis results, from 66.7 million paired-end 75 bp reads per sample
  • NU/CBC: $665

 Data Storage Policy

WES data is stored on the NUSeq server space for one year from the date of generation. It is recommended to transfer data files to the user's own space after they are generated.

Follow Center for Genetic Medicine on