Clinical Blended Genome-Exome Sequencing
A combined genome and exome product that supports GWAS and rare variant calling at the clinical level
Clinical Blended Genome-Exome (BGE) Sequencing with Broad Clincal Labs
- Low-cost: starting at $120/sample
- 28-day turnaround time; no minimum order size
- High-volume product, projects scaling to the hundreds of thousands (500k sample processing power/year)
- A clinical-grade whole exome (WES) mixed with a low-coverage PCR-free whole genome (WGS)
- Clinical-level extractions from blood or saliva is included
Clinical BGE Applications
BGE is being used at large scale for germline gene-disease discovery studies where the low pass genome region is used as an unbiased alternative to microarray genotyping in GWAS applications
This qualitative assay is intended for low pass genome and deeper exome sequencing of single nucleotide variants (SNVs) and small insertions and deletions (InDels) in human genome DNA extracted from saliva and blood samples
Service Overview- Clinical Blended Genome-Exome Sequencing
| Product Specifications | Data Deliverables |
|---|---|
| Mean Genome Coverage: 2–4x (min ≥1x) Exome Mean Target Coverage: 85–100x (min ≥ 60x) Percent Exome Bases @ 20x: 95% (min ≥ 90%) Percent Mapped Bases: 90% (min ≥ 75%) Percent Exome Callability: ≥ 95% Percent Contamination: 1% (max ≤ 2.5%) | Raw data (CRAM files aligned to HG38) Single sample hard-filtered VCF and gVCF Technical report |
Product Specifications
Mean Genome Coverage: 2-4x (min ≥1x)
Exome Mean Target Coverage: 85-100x (min ≥ 60x)
Percent Exome Bases @ 20x: 95% (min ≥ 90%)
Percent Mapped Bases: 90% (min ≥ 75%)
Percent Exome Callability: ≥ 95%
Percent Contamination: 1% (max ≤ 2.5%)
Data Deliverables
Raw data (CRAM files aligned to HG38)
Single sample hard-filtered VCF and gVCF
Technical report
Blended Genome-Exome Sequencing Methodology
1
From a single sample, a PCR-free whole genome library is constructed and a sub-aliquot is taken through PCR amplification and exome selection.
2
Genome and exome libraries are blended together for downstream processing.
3
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 clinical-grade (~85x) WES data.
4
Applications
- Global population genome-wide association studies and polygenic risk score determination
- Rare variant calling and monogenic risk determination
- Study of diverse populations and disease characteristics
- A more financially feasible alternative to WGS for large volume studies
- Population health studies
- Polygenic disease research
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
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 (CRAM, VCF) delivered via secure cloud based platform
