US Based · Whole Exome Sequencing Services
Whole Exome Sequencing Services
Advance your discovery with Signios Bio’s end-to-end exome (WES) analysis. High-quality data for all sample types with fast turnaround, delivered directly from our SF Bay Area lab.
WES Services
WES Services for Precise Variant Detection & Discovery
Signios Bio provides US-based WES services tailored for research and translational medicine. Utilizing industry-leading Twist Comprehensive Exome and Agilent SureSelect V8 enrichment, our validated workflows ensure robust somatic and germline mutation analysis—even from challenging low-input and FFPE-derived DNA.
Our service tiers are optimized for maximum sensitivity across diverse input types:
Standard WES Service
High-quality variant detection for discovery using industry-leading capture technology.
Low Input WES Service
Accurate exome profiling for precious samples yielding robust coverage and sensitivity.
FFPE WES Service
Enzymatic repair mitigates fixation-induced artifacts, ensuring reproducible and consistent data.
Expedited WES Service
For time-sensitive research, delivery in 10–12 business days to fast-track your discoveries.
Not sure which service fits your project? Our team provides complimentary technical consultations to help you select the optimal workflow based on your sample quality and research objectives. Read more about our services below or shortcut to explore Technical Documents and FAQ sections.
The Signios Advantage
Superior Workflow Performance & Technical Excellence
From sample extraction to final analysis, our optimized protocols maximize data yield and coverage uniformity for every project. We prioritize data integrity at every step of the library preparation and sequencing process to ensure high-sensitivity variant detection.
End-to-end Solutions
Integrated workflow from extraction and sample QC through bioinformatics reporting all in one location.
Superior Capture
Industry-leading capture with Twist Comprehensive Exome targeting 36.8Mb with >99% targeted region coverage.
Coverage
Illumina sequencing at 50-300x depth, ensuring superior uniformity and high on-target rates.
Sample Versatility
Specialized protocols to accommodate all sample types including Low-Input DNA and degraded FFPE.
US Based Services
All WES services are performed in-house at our Foster City lab in the San Francisco Bay Area. No outsourcing or international shipping.
Expert Support
Direct access to PhD-level scientists for study design, QC consultation and data interpretation.
Scalable throughput
From pilot studies to thousands of samples, we scale to meet your timeline.
Fast turnaround times
Optimized protocols using liquid handlers for efficient sample processing and data delivery.
The Signios Partnership
Laboratory Workflow & Quality Assurance
A transparent, five-step workflow outlining how your samples are processed, sequenced, and delivered with quality controls at every stage.
Step 1
Direct collaboration with our scientists to align technical workflows with your specific research objectives and study design.
Step 2
Streamlined sample registration via our customer portal. Schedule a local Bay Area courier pick-up or ship directly to our Foster City lab.
Step 3
Every project begins with an assessment of sample concentration and integrity. Using Qubit and TapeStation, we generate detailed reports for your review, ensuring complete transparency and customer sign-off on sample quality before moving into the library preparation phase.
Step 4
To eliminate batch effects and ensure precision, we utilize automated liquid handling for high-consistency library construction. Each library undergoes a final QC check before being pooled for high-output sequencing on the Illumina NovaSeq X Plus platform.
Step 5
Secure FASTQ and QC report delivery via SFTP or direct cloud transfer. Optional bioinformatics available for publication-ready insights.
Direct collaboration with our scientists to align technical workflows with your specific research objectives and study design.
Streamlined sample registration via our customer portal. Schedule a local Bay Area courier pick-up or ship directly to our Foster City lab.
Every project begins with an assessment of sample concentration and integrity. Using Qubit and TapeStation, we generate detailed reports for your review, ensuring complete transparency and customer sign-off on sample quality before moving into the library preparation phase.
To eliminate batch effects and ensure precision, we utilize automated liquid handling for high-consistency library construction. Each library undergoes a final QC check before being pooled for high-output sequencing on the Illumina NovaSeq X Plus platform.
Secure FASTQ and QC report delivery via SFTP or direct cloud transfer. Optional bioinformatics available for publication-ready insights.
Beyond the FASTQ
Comprehensive Bioinformatics for Our Whole Exome Sequencing Services
Our automated bioinformatics pipeline transitions your project from raw sequencing to biological insight. We employ industry-standard GATK Best Practices to ensure high-sensitivity variant calling, paired with deep functional annotation to prioritize the mutations that matter most to your research.
Deliverables Include
- FASTQ files
- Illumina Data QC report
- Alignment files (BAM)
- Processed results
- Publication-ready figures
- Secure delivery (SFTP, AWS, or Google Cloud)
SNV & Indel Distribution
Somatic Variant Analysis
CNV & Structural Events
Publication-Ready Figures
Applications of Whole Exome Sequencing
Our whole exome sequencing services support a broad range of research applications, including:
Germline and Somatic Variant Detection
Identifying inherited and acquired genetic variations.
Targeted Discovery
Focusing on protein-coding regions where most disease-associated variants occur.
Rare Disease Research
Identifying causative mutations in complex phenotypes.
Oncology & Tumor Profiling
Detecting somatic variants and driver mutations.
Pharmacogenomics
Understanding how genetic variation impacts drug response.
Population Genetics
Large-scale cohort studies for genomic discovery.
Resources & Insights
Service Flyer
Signios Bio’s advanced WES solutions
See how our whole-exome sequencing workflow supports different study types, from sample requirements through sequencing and data delivery.
QC Example
Whole Exome Sequencing QC Report
QC Report for Whole Exome Sequencing Libraries from high quality DNA.
Application Note
Solid Tumor Heterogeneity & Multi-Omic Characterization Brochure
Discover advanced multi-omic workflows designed to scale your solid tumor research, from comprehensive profiling to identifying critical biomarkers.
Frequently Asked Questions
Everything you need to plan your project
How do I order WES?
Reach out through our Request a Quote link. Our sales team will assist with your account setup. Ordering and sample submission are handled through our seamless customer portal for a streamlined experience.
What is the typical turnaround time (TAT)?
Our standard TAT is 3–4 weeks from sample QC approval. Choose our Expedited Service option for urgent or time-sensitive projects.
What type of QC is provided?
All gDNA is QC’d using Qubit and TapeStation. We provide formal reporting for every project. For marginal samples, our team provides a technical consultation to discuss omitting samples, sending replacements, or proceeding with risk for precious material.
What species are supported for WES?
We primarily support Human and Mouse. Compatibility is also available for Rat, NHP, Cynomolgus, and other species via validated off-the-shelf kits.
What library prep kits does Signios Bio use?
Signios utilizes Twist Comprehensive Exome (36.8 Mb) and Agilent SureSelect V8 (35.1 Mb) library preparations for the exome capture step to ensure high-efficiency enrichment.
What analysis options are available?
We offer different levels of analysis, from Basic (read alignment and variant calling) to Advanced (functional annotation, TMB profiling, and publication-ready figures).
What samples are compatible with WES?
Our WES services are validated against a wide range of sample types, including whole blood, tissue, saliva, FFPE, and low-input or degraded DNA. Our team will guide you toward the service best suited for your starting material.
What are the sample requirements for WES?
Sample Requirements
Source: Purified
- Recommended: 500 ng gDNA (Qubit Quantified) DIN > 7
- Minimum: 100 ng gDNA (Qubit quantified) DIN > 8
- Concentration: 10–50 ng/µl (minimum 20 µl)
Source: Cells
Recommended: 1e+6 cells frozen and pelleted
Source: Tissue
>20 mg of fresh, frozen tissue or stabilized tissue
Source: Blood
- Fresh or Frozen Blood for gDNA: 0.5–2 mL collected in EDTA Tube
- Fresh blood for cfDNA (frozen whole blood is not recommended for cfDNA): >10 mL collected in Streck Tube
- Plasma for cfDNA: >4 mL
Source: FFPE
- Recommended: 5 curls or slides with 10 µm thick tissue sections and surface area of 250 mm²
- Minimum: 2–3 curls or slides with 10 µm thick tissue sections and surface area of 250 mm²
What is the recommended sequencing depth?
For standard germline studies, we recommend 50x mean coverage. For somatic or cancer samples where low-frequency variants are present, we recommend 150x–300x depth.
What sequencing platform is used?
The Illumina NovaSeq X+ platform is utilized for sequencing with PE150 read lengths to provide the highest data quality and throughput.
Can Signios Bio handle low-input DNA?
Yes. We specialize in low-input and FFPE-derived DNA, utilizing specialized repair enzymes and high-efficiency capture kits to maximize data yield from challenging samples.
What kits does Signios use for DNA Extraction?
Signios selects from a suite of validated options, including Promega and Qiagen kits. Each kit is optimized for its respective starting material to ensure the highest yield and recovery.
Explore Related Sequencing Solutions
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- US-based, in-house at Foster City, CA
- Illumina NovaSeq X Plus
- Whole exome sequencing & custom exome solutions
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