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Exome and Targeted Sequencing

Advance variant discovery, biomarker identification, and
companion diagnostics development

Expertise, automation, and advanced technology deliver quality data with unprecedented speed and scale

Discovery’s Genomics Services, offer flexible and creative problem solving through a diverse range of hybridization and capture platforms, robotic automation, and advanced genomics technologies, our team of experienced scientists are well-equipped to propel your study goals forward.

We support projects spanning the full range of research, including basic, discovery, translational, and clinical, and have the infrastructure to deliver rapid turnaround times even for large-scale studies.

Discovery's Genomics Services Exome and Targeted Sequencing Services Advantages

Frequent review and optimization of hybridization techniques to increase capture efficiency and ensure even coverage across targeted regions

50x, 100x, 300x, and custom coverage options

Dual-index 100 base paired-end reads and custom read length options

Massive scale with the world’s largest commercial fleet of NovaSeq X Plus, Illumina NovaSeq 6000 sequencers as well as NextSeqs, MiSeqs, and iSeqs instruments

Optimized low-input WES workflows make the most out of your precious sample material.
Our automated workflows reduce turnaround time and increase reproducibility.

Industry-leading dual RNA and DNA extraction services are available

Rigorous validation and determination of technical specifications for exome and targeted sequencing services

Optimized multi-omic integration with clinical flow, cell biology, molecular pathology, and proteomic services – all under one roof

Access to the world’s largest commercial biorepository to build optimal study cohorts

Discovery's Genomics Services Exome and Targeted Sequencing Services

We support projects spanning basic, discovery, translational, and clinical phases, and we have the capacity to deliver rapid turnaround times even for large-scale studies.




> 1% Allele Fractions





Exome Sequencing

Exome Sequencing

Custom Sequencing

We can develop and validate bespoke targeted and WES assays

Discovery's Genomics Services Bioinformatics and Data Storage Services


Genomics Services Frequently Asked Questions

Contact us at or click here  and we will put you in touch with the right experts to discuss your project.

A Scope of Work (SOW) and/or Purchase Order (PO) must be completed before arranging any sample shipment. Shipments received prior to receipt of proper information will be quarantined and may be returned to the sender if needed information and official documentation is not received in a timely manner. It is suggested that a project kick-off discussion be conducted prior to shipment of any samples to ensure alignment with the laboratory activities upon receipt of samples.

An Analytical Plan will be compiled by your dedicated project manager. The Analytical Plan details laboratory activities and ensures client alignment prior to any sample processing.

The Analytical Plan will be shared with you for edits and comments. Discovery’s quality standards require that the Analytical Plan is agreed upon and signed off by Discovery and the client prior to any testing being performed.

Your primary contact throughout your project will be your dedicated project manager.

NOTE: Some projects may not require a formal Analytical Plan if deemed out of scope for the nature of the project at Discovery's discretion. This will be discussed with your Project Manager during the initiation of each project.

All sample shipments will require a clearly defined manifest including Protocol/Study identification, sample information, patient ID (if available), and contact information for shipper to rectify missing and/or ambiguous information.

Click here to see sample shipment requirements.

Any shipments missing this critical information will be put into quarantine and may experience extended turnaround times.

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