Whole Genome
Sequencing
- Population genomics
- Identification of somatic mutations in cancer
- Rare disease studies
- Biobanking projects
OVERVIEW
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
- Sample Receipt and Initial QC
- Library Construction and QC
- 2 x 150bp Paired Sequencing: 30x, 60x
- Data Delivery
Data Deliverable
- Data accessed via secure online digital transfer
- Alignment with reference genome
- Germline SNP/InDel/SV/CNV detection
- Somatic SNP/InDel/SV/CNV detection (for tumor-normal paired samples)
- 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 |
