Whole Genome Sequencing Services
End-to-end and scalable whole genome sequencing powered by Illumina NovaSeq X+ and PacBio Revio — delivering the most complete genomic view.
Whole Genome Sequencing Services
Signios Bio delivers end-to-end whole genome sequencing (WGS) services for discovery, translational, and clinical research. Our U.S.-based NGS facility provides standard, low-pass, and deep-coverage workflows using the Illumina NovaSeq X+ and PacBio Revio platforms. From DNA extraction through data interpretation, our scientists guide every step to ensure accuracy, reproducibility, and meaningful genomic insights.
Trusted by leading academic and industry researchers, Signios Bio supports oncology, rare disease, and population genomics projects worldwide.
Whole Genome Sequencing Workflows
Our whole-genome sequencing workflows are designed to support a range of research goals, from variant detection to de novo genome assembly.
Signios Bio leverages Illumina short-read sequencing for high-throughput projects and PacBio long-read sequencing for complex genome reconstruction and structural variant analysis.
| Library prep | Suitable for | Sequencing Platform | Starting Material |
|---|---|---|---|
| KAPA hyper prep | Any species | Illumina NovaSeq X+ | DNA 50 – 1000 ng Tissue 20 – 40 mg Cells >1×106 |
| PacBio HiFi Prep | Any species | PacBio Revio | DNA 8 – 10 µg Tissue Animal: 50 – 100 mg Plant: 1 – 5 grams Cells >3 x 106 |
| Service Type | Suitable for | Coverage Options | Species | Seq. Platform | Starting Material |
|---|---|---|---|---|---|
| Whole Genome standard | SNP/Small Variant Detection | Low Pass Survey Standard 30x Deep >60x | Any Species | Illumina NovaSeq X+ | Cells, tissues, blood, saliva, FFPE/curls, purified DNA |
| Whole Genome PCR-Free | Variant Detection with Reduced GC Bias, Structural Variants | Low Pass Survey Standard 30x Deep >60x | Any Species | Ilumina NovaSeq X+ | Cells, tissues, blood, saliva, FFPE/curls, purified DNA |
| Long Read Whole Genome | Genome Assemblies, Large SVs, Repeat Regions, Phasing | Standard 30x Deep >60x | Any Species | PacBio Revio | Cells, tissues, blood, saliva, purified DNA |
| Source | Requirements |
|---|---|
| Cells | Recommended: 1e + 6 cells frozen and pelleted |
| Tissue | 60 mg of fresh or frozen tissue or 20 mg of stabilized tissue |
| Blood | gDNA: 0.5 – 1 mL cfDNA: minimum 10 mL and 20 mL recommended |
| FFPE | Recommended: 5 slides with 10 µM thick tissues and surface area of 250 mm2 Minimum: 2-3 slides with 10um thick tissues and surface area of 250 mm2 |
| Curls | 5 curls (10 µM thick) |
| Purified | Ideal: 1 µg gDNA (Qubit Quantified) Minimum: 10 ng gDNA (Qubit Quantified) Concentration: 10 – 50 ng / µl (minimum 20 µl and above volumes) |
| Source | Requirements |
|---|---|
| Tissue | 60 mg fresh or frozen tissue |
| Blood | 1 mL |
| HMW DNA | 1 µg HMW DNA (per Gb genome size) |
Comprehensive Bioinformatics for Whole Genome Sequencing
Our bioinformatics team delivers high-quality data and insights:
- Basic Analysis: Read alignment, variant calling (SNVs, SVs, InDels), and QC metrics.
- Advanced Analysis: Genome assembly, annotation, and de novo assembly for non-model organisms.
- Specialized Analysis (Long-Read): Phasing, repeat detection, and 5mC methylation profiling.
All projects include annotated results, variant reports, and secure data transfer.
Applications of Whole Genome Sequencing
Our whole genome sequencing services support a broad range of research and translational applications, including:
- Germline & Somatic Variant Detection
- Rare Disease Research
- Oncology & Tumor Profiling
- Pharmacogenomics
- Epigenetics & Methylation Analysis
- Population Genomics & Epidemiology
Why Choose Signios Bio for Whole Genome Sequencing?
- End-to-End WGS Solutions – From library preparation to interactive data reporting.
- Broad Sample Compatibility – DNA from blood, tissue, cells, saliva, or FFPE samples.
- High Data Quality – Robust protocols ensure accurate variant detection and reproducibility.
- Scalable for Any Study Size – From single samples to population-level cohorts.
- Trusted by Leading Academic & Industry Researchers – Supporting oncology, rare disease, and population genomics.
- U.S.-Based Sequencing Expertise – All sequencing conducted in our California facility with global support.
Get Started with Whole Genome Sequencing
Whether you’re exploring rare genetic variants or conducting large cohort studies, Signios Bio provides the expertise and support you need. Our team is available to guide you through sample requirements, workflow selection, and bioinformatics options.
Explore Related Sequencing Solutions
Frequently Asked Questions
1. What is whole genome sequencing (WGS)?
WGS provides a comprehensive, base-by-base readout of an organism’s entire genome — including coding and non-coding regions. This enables detection of single nucleotide variants (SNVs), small insertions/deletions (InDels), structural variants (SVs), copy-number alterations (CNVs), and other genomic features critical for discovery and translational research.
2. What library-preparation workflows and sequencing platforms are available for WGS?
Signios Bio offers multiple workflows depending on project goals and sample types:
- Short-read workflows (e.g., Illumina) for broad coverage and cost-effective variant detection.
- Long-read workflows (e.g., PacBio) for complex genomes, structural variation, phasing, and repeat regions.
- Flexible input and library-preparation methods (including PCR-free where appropriate) ensure compatibility with diverse sample types.
3. What sample types and input requirements are accepted for WGS?
We accept high-quality genomic DNA from a variety of sources — human or model organism, cells, tissue (fresh, frozen, FFPE where validated), blood or cfDNA. Recommended input amounts and quality thresholds will vary by workflow; our team will guide selection of optimal preparation based on your sample.
4. What data-coverage options are available and how do I decide which depth to choose?
Coverage depth should align with your research question:
- Standard germline discovery may target around 30-40×.
- Somatic or tumour/normal comparisons may require higher depths (60×+, or even much higher for ultra-sensitive detection).
- Structural-variant or de-novo assembly projects may benefit from long-read, high-depth workflows.
Our team can help recommend the appropriate depth based on organism, sample quality, budget and bioinformatic goals.
5. How does Signios Bio ensure data quality, reproducibility and reliability across replicates?
Our lab follows validated workflows with strict QC checkpoints from DNA extraction through library prep, sequencing, data delivery and bioinformatics. We use industry-standard metrics and provide detailed QC reports. Our experience spans large-scale and publication-grade projects
6. What bioinformatics analysis packages are available after WGS?
We provide tiered analysis options:
- Basic: QC, raw FASTQ files.
- Standard: Alignment (BAM), variant calling (VCF) for germline variants.
- Advanced/Specialised: Includes structural variant detection, tumour/normal comparisons, copy-number calling, joint genotyping, de-novo assembly for long-read workflows, etc.
- Custom analyses can be tailored to your project requirements.
7. Can WGS data be integrated with other ‘omics’ datasets (e.g., RNA-Seq, epigenomics, spatial, single-cell)?
Yes — Signios Bio offers seamless multi-omic integration pipelines to link your WGS data with transcriptomics, epigenomics, single-cell and spatial data, thereby enabling deeper biological insight and regulatory network understanding.
8. What is the typical turnaround time for a WGS project and how do I get started?
Turnaround time depends on sample number, coverage depth, organism, and analysis complexity. After project scoping and input receipt, we’ll provide a project-specific timeline. To get started, submit your project details via our “Request a Quote” form or contact our scientific team — we’ll guide you through sample requirements, workflow options and analysis deliverables.
From sample to sequence — decode every base with confidence
Partner with Signios for accurate and comprehensive whole genome sequencing