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The genomics services you need for your research projects
Whole exome sequencing
TSO 500
Whole exome sequencing
The exome represents the entirety of all known coding exons of the human genome. Although the exome only comprises ~2% of the genome, almost 90% of all known disease-causing mutations are estimated to be located in these regions.
Our whole exome sequencing (WES) service provides a cost-effective and powerful solution for identifying genetic variants in protein-coding regions of the genome. By sequencing only the exonic regions, which harbor the majority of disease-causing mutations – including SNPs, SNVs, indels, CNVs, and large genetic variants.
WES enables researchers and clinicians to uncover genetic factors linked to diseases. WES supports applications in personalized medicine, clinical research, drug development, and therapy monitoring. WES offers deep insights into the most clinically relevant regions of the genome, while being more efficient and cost-effective than whole genome sequencing.
WES can be used for various application areas and goals, such as:
• population genetics
• genetic disorders
• rare diseases
• clinical research
• patient stratification
WES Service packages
We offer different Whole Exome Sequencing (WES) service packages depending on your requirements, including bioinformatic analysis.
| WES Basic | WES Deep | WES Flex | WES Somatic | |
| Starting material | High quality tissue, whole blood, or high molecular weight DNA | Fresh frozen tissue, FFPE tissue, high molecular weight DNA, or fragmented DNA (FFPE) | Fresh frozen tissue, FFPE tissue, high molecular weight DNA, or fragmented DNA (FFPE) | Fresh frozen tissue, FFPE tissue, high molecular weight DNA, or fragmented DNA (FFPE) Requires tumor and normal tissue |
| Target enrichment | IDT xGen Hyb Panel v2 | IDT xGen Hyb Panel v2 | IDT xGen Hyb Panel v2 | IDT xGen Hyb Panel v2 |
| Target region size | 34 MB | 34 MB | 34 MB | 34 MB |
| Sequencing platform | Illumina | Illumina | Illumina | Illumina |
| Sequencing output | 6 GB | 12 GB | Flexible | 6 GB normal; 12 GB tumor |
| Turnaround time | ~15 – 20 business days | ~15 – 20 business days | ~15 – 20 business days | ~15 – 20 business days |
| Included deliverables | Project report & files in FASTQ format | Project report & files in FASTQ format | Project report & files in FASTQ format | Project report & files in FASTQ format |
Bioinformatic analyses
We offer different levels of bioinformatic analysis.
- Basic: Included with every project. Demultiplexing of raw sequencing data (bcl to fastq), fastqc and multiqc reports.
- Preprocessing: Everything in basic and read trimming (fastp), mark duplicates, base quality recalibration and genome alignment, following GATK best practices.
- Variant calling: Everything in preprocessing, variant calling with freebayes, mutect2, Strelka (not with tumor-only samples), manta and cnvkit.
- Custom analyses: On request.
Data storage and processing
We are based in Sweden and all our offerings are fully compliant with GDPR. Your data is, at all times, stored and processed securely in data centers located in the EU.
TSO 500
TSO 500 analysis
The Trusight Oncology 500 panel (Illumina) enables comprehensive genomic profiling with a large pan-cancer panel covering all major variant classes plus gene signatures (TMB, MSI, and HRD) from FFPE tissue and cell-free DNA. The application areas of TSO 500 are manifold and include:
- stratifying patients for the best treatment choice
- identifying patients eligible for clinical trials
- clinical research
TSO 500 ctDNA can be an alternative to our tumor-informed Simsen Personal test when tumor tissue is unavailable, albeit with significantly lower sensitivity.
| Panel | TSO 500 | TSO 500 ctDNA |
| Number of genes analysed | 523 | 523 |
| Sensitivity | >0.5% VAF | >0.5% VAF |
| Starting material | Fresh frozen tissue, FFPE tissue, high molecular weight DNA, or fragmented DNA (FFPE) | Whole blood (e.g., Streck® tubes), plasma, other body fluids, isolated nucleic acids |
| Sequencing platform | Illumina | Illumina |
| Bioinformatics analysis | TSO 500 (Illumina) | DRAGEN (Illumina) |
| Turnaround time | ~15 – 20 business days | ~15 – 20 business days |