Human Whole Genome Sequencing
Clinical-grade whole-genome sequencing of the entire human genome — coding and non-coding — for the most comprehensive view of germline variation, structural variants and pharmacogenomics.
What we offer
What you receive
Workflow
Sample & QC
Extraction, QC and library prep under documented, standardised protocols.
Sequencing / Processing
Calibrated runs and pipelines on validated platforms.
Bioinformatics
HPC-backed assembly, alignment, variant calling and annotation.
Report & Insight
Publication-ready reports, with a dedicated project manager throughout.
Frequently asked
We accept tissue, whole blood, cell pellets, extracted DNA/RNA and a range of environmental and microbial samples. Our team advises on collection and shipping for each project.
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Human Whole Genome Analysis (hWGS)
Decoding the complete 3.2 billion base pairs. We provide high-precision bioinformatics for clinical diagnostics, uncovering deep intronic variants, complex structural rearrangements, and pharmacogenomic markers.
Analytical Scope
1. Clinical WGS & Rare Disease
Going beyond the exome to resolve diagnostic odysseys in probands and family trios.
- Detection of deep intronic and regulatory (promoter/enhancer) mutations.
- High-resolution mapping of large Structural Variants (SVs) and Mobile Element Insertions (MEIs).
- ACMG-compliant pathogenicity reporting.
2. Oncology: Comprehensive Tumor Profiling
Tumor-Normal paired WGS to uncover the complete mutational landscape of cancer.
- Non-coding driver mutations and complex chromosomal rearrangements (Chromothripsis).
- Precise Tumor Mutational Burden (TMB) and Homologous Recombination Deficiency (HRD) scoring.
3. Pharmacogenomics (PGx) & HLA Typing
Extracting high-resolution HLA alleles and CY450 gene variants to predict personalized drug responses and adverse reactions.
The WGS Advantage Over WES
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Uniform Coverage: WGS eliminates the capture biases of WES, providing highly uniform coverage across GC-rich regions and exons.
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Structural Variation: WES struggles with CNVs and SVs. WGS provides unparalleled accuracy in detecting large deletions, duplications, inversions, and translocations.
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Telomere-to-Telomere (T2T): Integrating long-read data allows us to resolve previously "dark" regions of the human genome, including centromeres and highly repetitive genes.
Sequencing Platforms
Short-Read (High-Throughput)
Illumina NovaSeq X Plus, MGI DNBSEQ-T7. The industry standard for high-accuracy SNV and Indel calling across large cohorts.
Long-Read (Phasing & SVs)
PacBio Revio (HiFi Reads) and Oxford Nanopore (PromethION). Essential for haplotype phasing, resolving tandem repeats, and capturing complex structural variation.
AI-Driven Bioinformatics
- • Data Requirements: >30x (Germline/Rare Disease), >90x (Tumor) with corresponding >30x Normal, Q30 > 85%.
- • DeepSomatic & DeepVariant: Google's CNN-based models radically reduce false positives in both germline and difficult tumor somatic contexts.
- • SpliceAI: Deep learning model predicting how non-coding variants affect mRNA splicing, critical for rare disease diagnosis.
Service Tiers & Deliverables
Research Germline WGS
Standard 30x Depth Analysis
TAT: 4 - 6 Days
Deliverables: Compressed CRAM/BAM, germline gVCF/VCF, comprehensive annotation (gnomAD, ClinVar, SpliceAI scores), and structural variant profiles.
Somatic Tumor-Normal WGS
High Depth (90x Tumor / 30x Normal)
TAT: 4 - 6 Days
Deliverables: Somatic VCFs, CNV/SV calls, TMB/HRD scoring, tumor purity/ploidy estimates, and Circos plots of chromosomal rearrangements.
Data Security & Clinical Reporting
Human genomic data requires the highest level of security. We ensure GDPR and HIPAA-compliant data handling architectures.
For translational research, we provide publication-ready graphics (Circos plots, Manhattan plots) and assist in structuring variant interpretations according to strict ACMG/AMP/CAP guidelines for constitutional and somatic variants.
