Research Blended Genome-Exome Sequencing

Achieve unbiased genome-wide coverage with exome depth in one cost-effective assay, designed to scale.

Comprehensive Genomic Insights with Blended Sequencing Solutions

Traditional genomic analysis approaches force difficult trade-offs: genotyping arrays offer cost-effectiveness but introduce bias and limited coverage, while whole exome sequencing provides coverage depth but can miss intronic variants. Broad Clinical Labs’ Research Blended Genome-Exome Sequencing (BGE) overcomes these challenges with an innovative single-sample methodology that combines low-pass whole genome sequencing (WGS) and deeper coverage whole exome sequencing (WES) that drives unbiased discovery in population genomics—

starting at just $120 per sample.

Blended Genome Exome
both data types delivered in one CRAM file

Blended Genome-Exome Sequencing Methodology

Drawing upon decades of leadership in methods development, Broad Clinical Labs has developed this distinctive blended approach to empower more insightful, less biased research studies.

From a single sample, a PCR-free whole genome library is constructed and a sub-aliquot is taken through PCR amplification and exome selection.
Genome and exome libraries are blended together into one tube.
The blended sample is sequenced on the Illumina^⁠⁠® NovaSeq X Plus platform, and a single CRAM file is generated containing low-coverage (1–3x) WGS and higher coverage (30–90x) WES data.
Alignment and variant calling are performed using the Illumina DRAGEN™ platform.

Transform Population Genomics with High-Sensitivity Genome-Exome Analysis

Affordable Comprehensive Genomics from One Sample

Obtain genome-wide variant detection and targeted coding region depth from a single sample, eliminating the need for separate WGS and WES studies. BGE provides unified data generation for both population-level insights and rare variant discovery without the budget impact of running multiple platforms.

Superior Global Coverage with Precision

Benefit from enhanced imputation accuracy with reduced population-specific variant bias. Our platform simultaneously achieves exceptional sensitivity and precision for both SNP and Indel variant detection within exome regions.

Scalable Throughput and Reliable Results

From pilot studies to population-level initiatives, our infrastructure scales to 500,000+ samples annually with consistent quality and performance. This high-throughput capacity maintains the reproducibility and data standards essential for impactful research.

End-to-End Support from Genomics Leaders

All sequencing is performed in our CLIA-licensed and CAP-accredited facility with comprehensive end-to-end services including sequencing, analysis, and data delivery. Benefit from 30+ years of genomics expertise and proven methodology that provides reliable data.

Research Applications

Drive breakthrough discoveries in genomic research with our innovative blended genome-exome sequencing platform.

Population Genomics

Disease Genetics

Translational Research