Multiomics
Bulk
Whole Exome Sequencing
Whole exome sequencing (WES) is a widely used genomic technique targeting protein-coding regions of the genome, presenting as a cost-efficient alternative to WGS that allows increased coverage of regions of interest.
Mirxes Genomics offers the options to focus on coding sequences with guaranteed >99% coverage, or to customize panels for comprehensive capture of coding sequences for discovery. Additional spike-ins are available, for example of genes relevant to various diseases and cancers, as well as 100% of the mitochondrial genome. Variant calling based on best practices is available with every WES service.
Twist NGS ProLab
Certified NGS provider by Twist Bioscience
Flexible Exome Targeting
Easily customizable spike-in content into the exome panel
High Quality Data
Q30 score of >85% for PE150 and PE100
Expert Bioinformatics Support
Custom analysis, with guaranteed data security
Library preparation
Sequencing
Bioinformatics analysis
| Suggested Sequencing Depths | Sequencing Platform | Turnaround Time |
|---|---|---|
|
Rare diseases 100x |
DNBSEQ-T7 |
2-4 weeks from successful sample QC to data delivery |
|
Oncology Tumor: ≥300x |
| Service | Sample type | Sample Source | Optimum Input Amount | Volume | Concentration | Purity and Quality |
|---|---|---|---|---|---|---|
| hWES | gDNA | Fresh frozen tissue, Cell line, Saliva, Blood | ≥ 500ng | ≥ 20μl | ≥ 10ng/μl | OD260/280 = 1.8 - 2.0 OD 260/230 ≥ 1.7 DIN ≥ 7 |
| gDNA | FFPE | ≥ 500ng | ≥ 20μl | ≥ 10ng/μl | Main band of > 1,500 bp (Q Score > 0.5 DIN ≥ 4) |
Please note that these requirements serve only as a guide. Please contact us for further assessment if your samples do not meet the requested amounts.
- Data Quality Control: Filtering reads with adapter or low-quality sequence data
- Alignment to reference genome using BWA
- Summary statistics of sequencing depth and coverage
- Germline variant calling based on best practices
- Somatic variant calling for tumor alone and/or tumor-normal paired based on best practices
- Full annotation services
- Joint calling for SNPs and Indels
- Tumor Purity
- Tumor Mutation Burden
- Microsatellite Instability
- Many other options upon request