OVERVIEW
Exceptional coverage, proven results.

Discover disease insights
with Whole Exome Sequencing

Whole Exome Sequencing (WES) analyzes the protein-coding regions of the genome, which contain the vast majority of known disease-causing mutations*.

Twist exomes pull from leading genetic databases to cover coding and noncoding regions important to human disease, as well as pathogenic variants known to be causative of human disease. This focused approach allows WES to efficiently identify genetic variants linked to research applications such as inherited disorders, rare diseases, and cancer. WES can be a cost-effective alternative to Whole Genome Sequencing (WGS), which decodes the entire DNA sequence.

Whole Exome
Sequencing
SELECT PANEL

 

BENEFITS

  • Targets only 1-2% of the entire genome, including protein coding regions and regions containing known disease causing variants
  • Useful for routine variant detection
  • Enables greater depth of sequencing for detection of target variants with improved sensitivity
  • Substantially reduces the amount of sequencing required, enabling greater throughput of samples per sequencing run
sequence
Whole Genome
Sequencing
Learn More

 

BENEFITS

  • Covers billions of bases for the complete genome
  • Offers comprehensive coverage for broader examination of genome alterations, including novel variants in both coding and noncoding regions
  • Readily enables retrospective analysis as new genetic biomarkers emerge
  • Key applications include rare disease research, population genomics, and functional genomics
sequence
How it works

Exome Sequencing Workflow

 

Exome sequencing requires preparing DNA libraries for sequencing followed by target enrichment. This second step is where exome panels come in - the panel you choose determines which targets are sequenced. Twist offers all of the necessary kits and reagents for both library preparation and target enrichment.

figure-exome
Why choose Twist

Optimized performance with the flexibility you need

Efficient by Design

Twist exome panels are expertly designed to ensure that sequencing efforts are targeted and efficient, focusing on regions most likely to contain clinically relevant variants. This can save cost and data analysis effort compared to sequencing the whole genome.

Better Probes, Better Panels

All Twist panels, including exomes, are designed using double-stranded DNA (dsDNA) probes, which have been shown to support consistent hybridization and uniform coverage across a range of samples.

Endlessly Adaptable

Twist Exome spike-in panels enhance coverage of target regions within your chosen exome. Increase coverage of mitochondrial DNA, other disease-specific loci, or customize your targets. Spike-ins integrate seamlessly into Twist workflows without hindering performance.

Want to see how our Exome 2.0 stacks up?

This interactive tech note let's you compare our panel against four commercially available exomes from other vendors.

Exceptional coverage, proven results.

Discover disease insights
with Whole Exome Sequencing

Whole Exome Sequencing (WES) analyzes the protein-coding regions of the genome, which contain the vast majority of known disease-causing mutations*.

Twist exomes pull from leading genetic databases to cover coding and noncoding regions important to human disease, as well as pathogenic variants known to be causative of human disease. This focused approach allows WES to efficiently identify genetic variants linked to research applications such as inherited disorders, rare diseases, and cancer. WES can be a cost-effective alternative to Whole Genome Sequencing (WGS), which decodes the entire DNA sequence.

Whole Exome
Sequencing
SELECT PANEL

 

BENEFITS

  • Targets only 1-2% of the entire genome, including protein coding regions and regions containing known disease causing variants
  • Useful for routine variant detection
  • Enables greater depth of sequencing for detection of target variants with improved sensitivity
  • Substantially reduces the amount of sequencing required, enabling greater throughput of samples per sequencing run
sequence
Whole Genome
Sequencing
Learn More

 

BENEFITS

  • Covers billions of bases for the complete genome
  • Offers comprehensive coverage for broader examination of genome alterations, including novel variants in both coding and noncoding regions
  • Readily enables retrospective analysis as new genetic biomarkers emerge
  • Key applications include rare disease research, population genomics, and functional genomics
sequence
How it works

Exome Sequencing Workflow

 

Exome sequencing requires preparing DNA libraries for sequencing followed by target enrichment. This second step is where exome panels come in - the panel you choose determines which targets are sequenced. Twist offers all of the necessary kits and reagents for both library preparation and target enrichment.

figure-exome
Why choose Twist

Optimized performance with the flexibility you need

Efficient by Design

Twist exome panels are expertly designed to ensure that sequencing efforts are targeted and efficient, focusing on regions most likely to contain clinically relevant variants. This can save cost and data analysis effort compared to sequencing the whole genome.

Better Probes, Better Panels

All Twist panels, including exomes, are designed using double-stranded DNA (dsDNA) probes, which have been shown to support consistent hybridization and uniform coverage across a range of samples.

Endlessly Adaptable

Twist Exome spike-in panels enhance coverage of target regions within your chosen exome. Increase coverage of mitochondrial DNA, other disease-specific loci, or customize your targets. Spike-ins integrate seamlessly into Twist workflows without hindering performance.

Want to see how our Exome 2.0 stacks up?

This interactive tech note let's you compare our panel against four commercially available exomes from other vendors.

PRODUCT OFFERINGS
What we offer

Our exome panels

Compare our leading exome panels below. Not sure what you need? Reach out to one of our experts.

SPEAK TO A SCIENTIST

Human Exome 2.0 + Comprehensive Exome Spike-In

For those that want extensive coverage of clinical variants

 

LEARN MORE

Human Exome 2.0

Our most focused exome for high efficiency

 

LEARN MORE

Target Size
37.64 Mb
36.5 Mb
Clinically Relevant Content
  • Pharmacogenomic SNPs
  • Extended Tert promoter coverage
  • 24 Sample ID SNPs
  • Additional 1.12 Mb of added disease variants
  • Pharmacogenomic SNPs
  • Extended Tert promoter coverage
  • 24 Sample ID SNPs
What we offer

Our exome panels

Compare our leading exome panels below. Not sure what you need? Reach out to one of our experts.

SPEAK TO A SCIENTIST

Human Exome 2.0 + Comprehensive Exome Spike-In

For those that want extensive coverage of clinical variants

 

LEARN MORE

Human Exome 2.0

Our most focused exome for high efficiency

 

LEARN MORE

Target Size
37.64 Mb
36.5 Mb
Clinically Relevant Content
  • Pharmacogenomic SNPs
  • Extended Tert promoter coverage
  • 24 Sample ID SNPs
  • Additional 1.12 Mb of added disease variants
  • Pharmacogenomic SNPs
  • Extended Tert promoter coverage
  • 24 Sample ID SNPs
Applications
cancer

 

Highlighted applications

Cancer Research

Exome sequencing surveys all protein coding genes for somatic mutations that are aquired by cancer cells and inherited germline mutations to better understand genetics driving the disease

LEARN MORE

raredisease
 
Highlighted applications

Rare Disease

Whole exome sequencing can assist with rare disease and genetic disorder research by elucidating the driver mutations or gene associated with the disease. Focusing on the exome makes it practical to screen larger populations.

LEARN MORE

hereditary
 
Highlighted applications

Hereditary Disease Research

Whole exome sequencing can identify inherited recessive mutations which can be associated to autosomal recessive disorders. Researching these variants in the genome can provide insight into how genetic disorders are inherited between individuals.

LEARN MORE

cancer

 

Highlighted applications

Cancer Research

Exome sequencing surveys all protein coding genes for somatic mutations that are aquired by cancer cells and inherited germline mutations to better understand genetics driving the disease

LEARN MORE

raredisease
 
Highlighted applications

Rare Disease

Whole exome sequencing can assist with rare disease and genetic disorder research by elucidating the driver mutations or gene associated with the disease. Focusing on the exome makes it practical to screen larger populations.

LEARN MORE

hereditary
 
Highlighted applications

Hereditary Disease Research

Whole exome sequencing can identify inherited recessive mutations which can be associated to autosomal recessive disorders. Researching these variants in the genome can provide insight into how genetic disorders are inherited between individuals.

LEARN MORE

CUSTOMER TESTIMONIALS

What our customers are saying

 

“Twist whole-exome panel in combination with their universal adapters is something magical that changed my life! This kit and enhanced hybridization reagents worked on that high paraffin containing FFPE samples where other on-market kits have been failing. Not only it produced libraries, but the data was high on target with a low duplication rate and uniform coverage.”

 

Dr. Renata Pellegrino

Ph.D., Technical Director 


The Children’s Hospital of Philadelphia

(CHOP)

 

 

Twist products are for research use only. The products presented here are not intended for the diagnosis, prevention, or treatment of a disease or condition. Twist Bioscience assumes no liability regarding use of the product for applications in which it is not intended. The results are specific to the institution to which they were obtained. The results presented are customer-specific and should not be interpreted as indicative of performance across all institutions.

 

* Choi, Murim et al. “Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.” Proceedings of the National Academy of Sciences of the United States of America vol. 106,45 (2009): 19096-101.

Need help building your exome workflow?

 

TALK TO A SCIENTIST

What our customers are saying

 

“Twist whole-exome panel in combination with their universal adapters is something magical that changed my life! This kit and enhanced hybridization reagents worked on that high paraffin containing FFPE samples where other on-market kits have been failing. Not only it produced libraries, but the data was high on target with a low duplication rate and uniform coverage.”

 

Dr. Renata Pellegrino

Ph.D., Technical Director 


The Children’s Hospital of Philadelphia

(CHOP)

 

 

Twist products are for research use only. The products presented here are not intended for the diagnosis, prevention, or treatment of a disease or condition. Twist Bioscience assumes no liability regarding use of the product for applications in which it is not intended. The results are specific to the institution to which they were obtained. The results presented are customer-specific and should not be interpreted as indicative of performance across all institutions.

 

* Choi, Murim et al. “Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.” Proceedings of the National Academy of Sciences of the United States of America vol. 106,45 (2009): 19096-101.

Need help building your exome workflow?

 

TALK TO A SCIENTIST