Exomes

NGS sequencing assay designed for independent sample identity confirmation in WES, WGS, and gene panel workflows, providing an additional layer of traceability and integrity control from sample receipt to final analysis. It generates a unique genetic fingerprint with a simple workflow and an automated report to facilitate data interpretation. Detailed Description Operating Principle The sample…

Exome designed to provide comprehensive coverage of coding regions, with additional content in clinically relevant non-coding regions. Detailed Description Operating Principle SureSelect Clinical Research Exome V4 is based on library preparation and exome capture enrichment, combining broad coverage of human coding regions with enhanced content in clinically relevant non-coding regions. Its design incorporates genomic findings…

A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM™ platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow. Detailed Description Operating Principle A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA…

Comprehensive solution for whole exome sequencing with Illumina technology, combining library preparation by tagmentation with capture-based enrichment, sequencing, and bioinformatics analysis, enabling a single workflow. Detailed Description Operating Principle The workflow uses magnetic bead-linked transposomes (eBLT) for rapid and uniform tagmentation. Following index PCR, a hybrid capture enrichment step is performed using the Twist Bioscience…

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…

Twist Human Comprehensive Exome and Twist Human Exome 2.0+ are two of the capture solutions for human exome sequencing from Twist Bioscience. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes and its library preparation and capture reagents achieves the best market uniformity of coverage and the lowest duplicate rate, generating the highest quality data…

Twist Human Core Exome and Twist Human Core Exome + Ref Seq are the two capture solutions for human exome sequencing by Twist Bioscience. The superior performance of the Twist Core Exome provides the optimal solution for sequencing human coding genes, while focusing on the most accurate curated subset of genes: that of the CCDS…

Study of the coding regions of more than 19,000 genes by NGS.