Whole Genome
Sequencing
Identify changes across coding and non-coding regions in a single, comprehensive massively parallel sequencing workflow.
Our whole genome sequencing services support discovery research and clinical applications alike — spanning infectious disease, microbiology, immunology, inherited disorders, oncology, and reproductive health.
Sequencing Methodologies Built Around Your Study
From research-use-only discovery projects to CAP/CLIA-certified clinical samples, our dedicated bioinformatics team supports a full range of sequencing approaches.
Clinical Whole Genome Sequencing
CAP/CLIA-aligned human sequencing at 30X mean depth, delivering clinically annotated reports for inherited disorder diagnosis and disease risk assessment.
DNA Resequencing
Reference-aligned sequencing with annotated variant reporting and streamlined analysis for fast, reliable genome-wide comparisons.
Low-Pass Sequencing
Cost-efficient 0.5-1X coverage sequencing ideal for genome-wide association studies (GWAS) and large-scale population screening.
Long-Read Sequencing
PacBio-powered sequencing with 10+ kb average read lengths, enabling de novo assembly and resolution of complex structural regions.
De Novo Sequencing
Reference-free sequencing for non-model organisms, complete with gene prediction and functional annotation.
Targeted Panels
Disease-specific sequencing panels designed for rapid risk assessment, confirmation testing, and focused variant discovery.
Industry-Leading
Sequencing Platforms
We run short-read sequencing on Illumina NovaSeq 6000, HiSeq X, and NovaSeq X Plus platforms with 2 × 151 bp read lengths, alongside long-read sequencing on PacBio Sequel IIe for de novo assembly and structural variant resolution.
Sequencing depth is fully customizable per project, and our library preparation options — including TruSeq DNA Nano/PCR-Free, Nextera DNA Flex, and PacBio HiFi/SMRTbell — are matched to your sample type and study goals.
Short & Long-Read Platforms
Illumina NovaSeq 6000, HiSeq X, NovaSeq X Plus, and PacBio Sequel IIe.
Custom Sequencing Depth
30X mean depth for clinical WGS, with fully configurable coverage per project.
Flexible Data Delivery
Demultiplexed FASTQ files as standard, with BCL files available on request.
Sample Requirements & Analysis Tiers
Clear specifications and analysis options so your samples are sequencing-ready from day one.
| Parameter | Short-Read Sequencing | Long-Read Sequencing |
|---|---|---|
| DNA Input | 100–200 ng (PCR-Plus) / 500–1000 ng (PCR-Free) | 8.1 µg high molecular weight |
| Concentration | ≥ 20 ng/µl | ≥ 50 ng/µl |
| Quality (DIN) | ≥ 7.0 (non-FFPE) / ≥ 4.0 (FFPE) | ≥ 8.0 |
| Acceptable Sources | Blood, cultured cells, tissue, FFPE, saliva, swabs | Blood, cultured cells, fresh tissue |
Basic Bioinformatics
- Data quality control
- Reference mapping (ISAAC/BWA-GATK)
- SNP and InDel variant analysis
Advanced Bioinformatics
- Structural variant & copy number analysis
- Family trio and tumor-normal pairing
- Joint genotyping and custom workflows
A Streamlined Project Workflow
From first consultation to final report, every step is tracked and quality-controlled.
Consultation
Set up your account and design your study alongside our scientific team to define coverage, platform, and analysis needs.
Order Placement
Receive a detailed quote, shipping instructions, and project kickoff so your samples move seamlessly into the pipeline.
QC & Delivery
Built-in quality control at every stage, with real-time progress updates and secure results delivered through your client portal.
Applications Across Research & Clinical Domains
Genome-wide coverage supports discovery and diagnostic goals across a broad range of therapeutic areas.
Infectious Disease Research
Investigate pathogen genomes and drug resistance mechanisms to inform treatment and containment strategies.
Population Genomics
Power genome-wide association studies (GWAS) with scalable, cost-effective low-pass sequencing across large cohorts.
Clinical Diagnostics
Confirm inherited disorders and detect structural variants with clinically annotated, CAP/CLIA-aligned reporting.
Oncology
Characterize tumor genomes and support precision medicine through tumor-normal pairing and variant analysis.
Comparative Genomics
Assemble and annotate non-model organism genomes with reference-free, de novo sequencing workflows.
Reproductive Health
Support genetic risk assessment and family planning decisions with high-confidence variant detection.
Life science innovators
come to CNC Path Lab
Ready to accelerate your clinical program? Our experts are here to help you design and execute the perfect laboratory strategy. Are you ready?