Flexibility
Choose from Exome 2.0, Comprehensive Exome or the Mitochondrial Panel. Each can be extended with spike-in content tailored to your application.
Twist Bioscience
Twist Exome — exceptional uniformity and flexibility
Twist Exome sequencing analyses the coding regions of the human genome, which contain the majority of known causal mutations. dsDNA probes with the best coverage uniformity on the market, full customisation and a spike-in option for extended content.
- 36.5 Mb Twist Exome 2.0
- 99%+ Coverage uniformity (best on the market)
- 1–2% Of the genome = higher coverage depth, more samples
Key advantages
Three reasons to choose Twist Exome
Spike-in option
Add your own content to the standard exome: genes, regulatory regions and variants. Comprehensive Exome comes ready-made as Exome 2.0 + 1.12 Mb of clinically relevant variants.
Best uniformity
Twist probes achieve the highest coverage uniformity on the market. Fewer reads for the same target coverage means a lower cost per sample and more samples in a single run.
Exome panels
Three options for different needs
Twist Exome 2.0
The most focused exome for maximum efficiency
36.5 Mb panel size
Content
- Pharmacogenomic SNPs
- Extended coverage of the TERT promoter region
- 24 sample ID SNPs
- CDS coding regions with high uniformity
Main uses
- High-throughput variant detection
- Hereditary diseases
- Rare diseases
- Oncology research
Twist Comprehensive Exome
Exome 2.0 + 1.12 Mb spike-in of clinically relevant variants
37.64 Mb panel size
Content
- Everything in Exome 2.0
- + an additional 1.12 Mb of clinically relevant variants
- Extended coverage of pathogenic variants
- Suitable for broader clinical interpretation
Main uses
- Broad clinical interpretation
- Paediatrics and neonatology
- Mendelian disorders
- Extended oncology workflow
Twist Human Mitochondrial Panel
Complete coverage of the mitochondrial genome
16,569 bp panel size
Content
- All 16,569 bp of human mtDNA
- 37 genes (13 protein-coding, 22 tRNA, 2 rRNA)
- Heteroplasmy detection
- Suitable as a standalone panel or as a spike-in to an exome
Main uses
- Mitochondrial diseases (MELAS, MERRF, LHON)
- Diagnostics of neurodegenerative diseases
- Maternal inheritance
- Ageing and heteroplasmy
Main applications
Always more than just the clinic
Rare diseases
Higher diagnostic yield in rare diseases, paediatrics and neonatology thanks to comprehensive coverage.
Hereditary diseases
Mendelian disorders, predisposition and family-based studies. Mitochondrial spike-in for full coverage.
Oncology research
Detection of somatic and germline variants relevant to cancer. Higher sensitivity thanks to uniform coverage.
Let's start
Would you like to try Twist Exome?
Let us know and we will be happy to offer you a trial kit, including great support from our applications team.