Research Services
Whole Genome
Sequencing
Applications
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Population genomics
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Identification of somatic mutations in cancer
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Rare disease studies
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Biobanking projects
A Complete View for Researchers Unlocking Genetic Insights
Human whole genome sequencing (hWGS) enables researchers to describe the full genetic composition of individuals and characterize entire human genomes. It allows the identification of genomic variation information, including single-nucleotide polymorphisms (SNPs), insertions and deletions (InDels), structural variations (SVs), and copy number variations (CNVs) in a single and cost-efficient assay.
Our hWGS services offer the reliability and scalability to produce results you can trust for any size study. Combining the latest sequencing technology with the capabilities in process design, automation, and informatics, we produce the highest quality, most scalable whole genome sequencing available.
What's Included
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Sample Receipt and Initial QC
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Library Construction and QC
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2 x 150bp Paired Sequencing: 30x, 60x
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Data Delivery
Data Deliverable
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Data accessed via secure online digital transfer
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Alignment with reference genome
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Germline SNP/InDel/SV/CNV detection
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Somatic SNP/InDel/SV/CNV detection (for tumor-normal paired samples)
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Germline Variant Call Format (VCF)
Whole Genome Services
Service | Utility | DNA Input | Compatible Extractions | Coverage |
|---|---|---|---|---|
Standard Coverage Human WGS | Medical & population genetics, disease research, and evolution studies | 350 ng | Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats | 30X |
Deep Coverage Human WGS | Rare disease population studies, and Case/proband for case-control tumor/normal & trio/somatic analysis | 350 ng | Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats | 60X |
Common Disease WGS | Screening and large population studies | 350 ng | Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats | Variable |
Collaborate with us
We act as scientific partners to help integrate human genetics into drug discovery and development. Whether identifying new targets, evaluating clinical-stage assets, or refining development strategies, Genomics delivers customised, data-driven approaches tailored to your strategic goals. Together we can accelerate drug discovery and advance population health to help people live longer, healthier lives.