Human Whole Exome Sequencing

Applicable for discovery and identification of disease-associated variants, the latest version of Human Whole Exome Sequencing represents marked advances over prior iterations. Leveraging the Broad Institute’s experience in sequencing >100,000 whole exomes, the most recent bait set (38Mb target territory) includes all of our previous exome content plus additional coding content that brings the total coverage of the RefSeq and GENCODE v12 databases to >98%. This design contains ~15% more content and is more evenly covered.

Extensive analysis of data produced across 15,000 exomes using this design has resulted in a range of coverage levels to address specific questions for which exome data is providing answers. Key considerations into these levels include optimization of coverage evenness across targets with calculated sensitivity to identify variants including SNV’s and Indels, which has increased to >97% and >93%, respectively (at read depth >80X) when coupled with the GATK Haplotype Caller.

Human Germline Whole Exome Sequencing

Useful for both large scale medical and population genetics studies as well as the “normal” control for cancer studies where tumor/normal pairing is used for indel co-cleaning, this product has been optimized for coverage uniformity.  The Human Germline Whole Exome Product provides data covering 80% of targets at 20X or greater, with typical mean target coverage in excess of 80X.

Human Somatic Whole Exome Sequencing

The Human Somatic Whole Exome product provides deeper coverage necessary for discovery and identification of somatic variants associated with human cancers, when paired with Human Germline Whole Exome Sequencing.This product provides 100X or higher coverage of greater that 50% of exome targets, with typical mean target coverage of ~150X.

Exome Express

The Exome Express pipeline is a uniquely designed workflow optimized for speed that can be applied to both Somatic and Germline Human Whole Exome Products. Turnaround time from verified* sample receipt to aggregated BAM file generation is 21 calendar days or less. Samples that fail to meet this deliverable will be charged at the standard rates.

*Verified sample receipt includes a validation of funding and compliance agreements

What’s Included

Human Whole Exome Products include Sample receipt and QC, library preparation, hybrid capture, sequencing (76bp paired reads), and sample fidelity QC. Data delivery includes a de-multiplexed, aggregated, Picard-generated BAM file. Variant Call Format (VCF) files are also available based on experiment design. Human Whole Exome products require 250ng/ul of purified DNA. Additional information on sample input requirements is found here. In addition, DNA extraction is available from a variety of primary sample source materials


If you would like to initiate a project or get more information, please use the Genomics Platform inquiry form to contact us. A member of the team will get in touch with you directly to discuss how to move forward with your project.