IVDR workflow for whole exome sequencing (WES) that integrates Twist’s exclusive double-stranded DNA (dsDNA) probe technology with its library preparation and targeted capture reagents. The result: achieving the best coverage uniformity on the market and superior quality data for clinical environments.

Detailed Description

Operating Principle

The system combines a streamlined library preparation, based on single-tube enzymatic fragmentation, with selective enrichment of regions of interest using high-precision capture probes. The panel design ensures a high on-target rate and uniform coverage, generating highly complex libraries and homogeneous enrichment of the regions of interest.

Twist Exome Workflow

Clinical Applications

Whole exome sequencing (WES) is currently an essential tool in clinical practice for identifying genomic alterations with diagnostic and/or therapeutic relevance. Compared to whole genome sequencing, it offers lower cost and optimal coverage of the coding regions of the human genome, facilitating more precise diagnoses and informed medical decision-making.

Benefits

The panel captures 37.7 Mb of the human genome and includes over 97% of the reference bases such as CCDS, RefSeq, Gencode, and Ensembl v101. Additionally, it covers clinically relevant regions, such as pathogenic or likely pathogenic intronic variants reported in ClinVar, and incorporates the mitochondrial genome.

This translates into highly complex libraries, uniform enrichment, and robust performance that meets the highest IVDR standards.

Technology Used

The kits include individual library preparation reagents by enzymatic fragmentation, using Unique Dual Indices; and the necessary reagents for target enrichment by capture, including the human mitochondrial genome.

The IVDR marking guarantees reproducible results, validated quality, and tested performance.

Intended Audience/User

Molecular diagnostic laboratories working with human genomic DNA samples for whole exome applications, in in vitro diagnostic environments.

Additional Considerations

To facilitate the integration of IVDR workflows in laboratories, Twist has partnered with Platomics and its PlatoX® IVD Assistant platform, although the end-user must perform additional validation when integrating the products into diagnostic applications.

Key Features

98% of on-target bases with ≥30x coverage.
>95% of regions covered at ≥50x and 98% at ≥30x.
On-target percentage: ~85%.
Probes covering 37.7 Mb of the human genome.
>97% coverage in CCDS, RefSeq, Gencode, and Ensembl v101.
Uniformity rate close to 1 (Fold-80 base penalty metric), which translates to fewer wasted reads.
Twist Exome Funcionamiento

Presentation Details

Available in two formats:

By components: Twist Precision Prep and Enrichment Dx Kit and Twist Precision Exome Dx Panel. As a complete solution: Twist Exome Dx Kit.

Included components (depending on kit):

Twist Exome Dx Kit (complete solution): fragmentation and library preparation reagents + target enrichment + exome probes. Twist Precision Prep and Enrichment Dx Kit: reagents for enzymatic fragmentation, library preparation, and target enrichment. Twist Precision Exome Dx Panel: targeted capture probes for exome enrichment.

References

Twist Precision Exome Dx Kits
104984 16×2 samples
104985 96×12 samples (Plate A)
104986 96×12 samples (Plate B)
104987 96×12 samples (Plate C)
104988 96×12 samples (Plate D)
Twist Precision Prep and Enrichment Dx Kits
107626 16×2 reactions
107627 96×12 reactions (Plate A)
107628 96×12 reactions (Plate B)
107629 96×12 reactions (Plate C)
107630 96×12 reactions (Plate D)
Twist Precision Exome Dx Panels
107619 2 reactions
107620 12 reactions

Area:

Exomes, Hereditary and/or Rare Diseases, Molecular Genetics
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