Research Services
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
What's Included
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Sample Receipt and Initial QC
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Library Construction and QC
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Sequencing and Data Delivery
Data Deliverable
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Data accessed via secure online digital transfer
SNP and InDel calling
Somatic SNP/InDel/CNV mutation detection (tumor-normal paired samples)
Germline Variant Call Format (VCF) files
Whole Exome Services
Service | Utility | DNA Input | Compatible Extractions | Coverage |
|---|---|---|---|---|
Germline Exome | Non-cancer, including population genomics, rare and common disease cohort studies | 100 ng | Fresh frozen tissue, blood, saliva, cell pellets, or buffy coats | 20X |
Somatic Exome Standard Coverage | Control for case-control tumor/normal & trio/somatic analysis | 100 ng | Fresh frozen tissue, blood, FFPE* saliva, cell pellets, or buffy coat | 100X |
Somatic Exome Deep Coverage | Case/proband for case-control tumor/normal & trio/somatic analysis | 100 ng | Fresh frozen tissue, blood, FFPE* saliva, cell pellets, or buffy coat | 100X |
* Due to the inherent nature of samples derived from FFPE to contain degraded and crosslinked nucleic acids, all samples submitted are accepted “on risk” and subject to billing regardless of data quality.
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.
Advancing Research with Human Whole Exome Sequencing
Human Whole Exome Sequencing (hWES) provides an in-depth sequencing and analysis approach to indicate genome variants, germline mutations, somatic mutations, and pathogenic mechanisms. hWES service supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.
Our hWES services provide you with the quality, reliability, and speed that come as a result of our experience sequencing more than a quarter million exomes. Optimized for depth and evenness of coverage, with high sensitivity to detect SNVs and indels.