Clinical Blended Genome-Exome Sequencing
Leverage a cost-effective, combined WGS and WES approach to maximize genetic insights and improve patient care.
Maximize Genetic Insights with a Combined Approach
Clinical trials and population health programs face a dilemma: Whole Genome Sequencing (WGS) offers comprehensive data but strains budgets, while more affordable Whole Exome Sequencing (WES) can miss critical rare mutations.
Break this paradigm with Clinical Blended Genome-Exome (cBGE) Sequencing services. This innovative workflow, developed by Broad Clinical Labs, captures both common and rare variants by combining low-coverage, PCR-free WGS with high-depth WES in one cost-effective assay,
starting at just $150 per sample.
Clinical BGE Sequencing Service Overview
Our validated workflow creates PCR-free whole genome and targeted exome libraries from a single sample, combining them for sequencing on the Illumina® NovaSeq X Plus platform to achieve comprehensive variant detection across both low-pass genome and high-depth exome data.
- Combined Coverage: 2–4X genome + 85–100X exome sequencing in one assay
- End-to-End Solution: No minimum orders—from single samples to 500K annual capacity
- Flexible Scale: Includes clinical-level extractions (blood or saliva), sequencing, analysis, data delivery, and optional clinical interpretation
- Advanced Technology: The innovative Clinical BGE sequencing workflow leverages the NovaSeq X Plus sequencing platform and the bioinformatic analysis software DRAGEN, both by Illumina®
Blended Genome Exome
both data types delivered in one CRAM file
Designed for Clinical Impact
Clinical BGE sequencing bridges the gap between genomic discovery and clinical action—at scale.
Read more about our clinical trial and patient care partnerships.
Clinical Blended Genome-Exome Sequencing with Broad Clinical Labs
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Clinical Blended Genome-Exome Sequencing on Illumina® NovaSeq X Plus |
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How cBGE Services are Advancing Personalized Medicine
As a cost-effective alternative to microarrays for GWAS studies, clinical BGE sequencing supports diverse applications including germline gene-disease discovery, population diversity & community health studies, and comprehensive risk analysis, with both rare variant detection (SNVs, small indels, and CNVs) and polygenic scoring. Discover how these applications come together in real-world programs that are improving patient outcomes.
Precision Prostate Cancer Screening
The Department of Veterans Affairs’ (VA) groundbreaking ProGRESS clinical trial leveraged our clinical BGE sequencing services to generate both monogenic and polygenic risk scores for 500,000 veterans, creating personalized screening protocols based on comprehensive genetic risk. This first-of-its-kind trial demonstrates how integrated genomic data can transform cancer screening from one-size-fits-all to truly personalized care.
Advancing Health Equity
Southern Research’s Catalyst program uses our clinical BGE sequencing services to bring free genetic testing to underserved Alabama communities—a state ranking 49th in life expectancy. By providing comprehensive disease risk assessment and pharmacogenomics to patients and their primary care providers, this initiative showcases how accessible genomic testing with actionable insights can address healthcare disparities and enable preventive care where it’s needed most.
Expanding Access to Cardiac Genetics
Everygene’s nationwide cardiomyopathy testing program leverages our clinical BGE sequencing services to deliver free genetic testing to patients across the United States, addressing the critical gap where fewer than 2% of cardiomyopathy patients currently receive genetic evaluation. Through collaboration with the Laboratory for Molecular Medicine at Mass General Brigham for expert variant interpretation, this initiative demonstrates how advanced genomic technology can eliminate financial and logistical barriers to life-saving cardiac genetic testing for over one million Americans living with this condition.
Download our poster to learn more about Clinical BGE Sequencing for translational genomics.
Project Workflow: Blended Genome-Exome Sequencing
Project onboarding
(contracting if required)
Regulatory Review
Quoting
Sample Kits
Sample intake and QC
(extraction optional)
Inputs:
Blood
Saliva
DNA
Buccal Swab
Library construction
One sample generates a whole exome and PCR-free whole genome library
The two libraries are pooled together to hit target coverage levels
Sequencing
Sequencing on Illumina® NovaSeq X Plus
Data and report delivery
(bioinformatic analysis optional)
Data delivered via secure cloud-based platform
Project onboarding
(contracting if required)
Regulatory Review
Quoting
Sample Kits
Sample intake and QC
(extraction optional)
Inputs:
Blood
Saliva
DNA
Buccal Swab
Library construction
One sample generates a whole exome and PCR-free whole genome library
The two libraries are pooled together to hit target coverage levels
Sequencing
Sequencing on Illumina® NovaSeq X Plus
Data and report delivery
(bioinformatic analysis optional)
Data delivered via secure cloud-based platform