Research Human Whole Exome Sequencing

Drive your next research breakthrough with affordable, trusted exome sequencing.

Comprehensive Sequencing Solutions for Human Exome Research

Avoid research delays caused by expensive services, inconsistent quality, or unreliable turnarounds that compromise variant discovery. Broad Clinical Labs’ research-grade germline and somatic Whole Exome Sequencing (WES) delivers the cost-effective pricing and enterprise-level reliability you need to maximize sample throughput while maintaining rigorous quality standards. Our research-grade human whole exome sequencing uses advanced hybrid capture technology to deliver >98% coverage across RefSeq and GENCODE territories.

From population studies to cancer genomics, our flexible offerings support diverse research applications.

Germline Whole Exome Sequencing Service with Illumina® NovaSeq 6000

Optimized for identifying inherited variants and population-level genetic studies

Somatic Whole Exome Sequencing Service with Illumina® NovaSeq 6000

Designed for tissue or cell-specific somatic variant discovery

To download the list of genes covered by our Whole Exome Sequencing, please click here.

Research Applications

Cancer Biology

Disease Mechanism & Functional Genomics

Population & Disease Genetics

Proven WES Technology to Scale Your Research Impact

Advanced Exome Technology at Unmatched Pricing

Exomes sequenced using the Illumina® NovaSeq 6000 platform, with unprecedented affordability per sample.

Proven WES Scale and Reliability

Our infrastructure has successfully processed over 1 million exome samples in our CLIA-licensed and CAP-accredited facility. You can depend on our turnaround times for projects from pilot studies to population-level research.

Expert Support from Pioneers

Benefit from over 30 years of BCL expertise and a commercially available probe design co-developed with the Broad scientific community and TWIST Bioscience, complemented by secure data delivery and Illumina® DRAGEN software analysis for confident, actionable insights.

Research Whole Exome Sequencing with Broad Clinical Labs

Service or tier/type Data Deliverables What’s Included

Germline WES
on Illumina® NovaSeq 6000

  • CRAM file
  • Summary metrics
  • Sample receipt & fidelity QC
  • De-multiplexing, aggregation, & alignment
  • SNV, InDels, CNVs

Somatic WES
on Illumina® NovaSeq 6000

  • BAM file
  • Summary metrics
  • Sample receipt & incoming QC (including sample fidelity/identity)
  • Library construction, hybrid capture, and QC
  • Sequencing, analysis, and data delivery

Project Workflow- Whole Exome Sequencing

Project onboarding

Project onboarding
(contracting if required)

Regulatory Review
Quoting
Sample Kits

Sample intake and QC

Sample intake and QC
(extraction optional)

Minimum DNA input requirements vary by service

Library Receipt at BCL

Library construction

Also includes in-solution hybrid capture and QC

Sequencing

Sequencing

Illumina® NovaSeq 6000

Data delivery

Data and report delivery
(bioinformatic analysis optional)

Illumina® DRAGEN analytic pipeline

Data delivered via secure Cloud based platform

Project onboarding

Project onboarding
(contracting if required)

Regulatory Review
Quoting
Sample Kits

Sample intake and QC

Sample intake and QC
(extraction optional)

Minimum DNA input requirements vary by service

Library Receipt at BCL

Library construction

Also includes in-solution hybrid capture and QC

Sequencing

Sequencing

Illumina® NovaSeq 6000

Data delivery

Data and report delivery
(bioinformatic analysis optional)

Illumina® DRAGEN analytic pipeline

Data delivered via secure Cloud based platform

Leverage the expertise behind over 1 million sequenced exome samples. Contact us today to accelerate your research.

Need to capture both common and rare variants in one streamlined, cost-effective solution?