Hereditary and/or Rare Diseases

NGS library preparation kit designed for demanding WGS applications, featuring adjustable enzymatic fragmentation, high yield, and more uniform coverage even from low-input or degraded DNA. The documentation highlights its utility in complex samples, including severely degraded FFPE, and its strong performance in AT- and GC-rich regions. Detailed Description Operating Principle This library preparation solution is…

Target enrichment solution for long-read sequencing that combines preconfigured panels and customizable options to study complex genomic regions with high uniformity, balanced coverage, and precise analysis of SNPs, indels, and structural variants. Detailed Description Operating Principle The workflow integrates Twist's targeted enrichment technology with long-read sequencing to efficiently capture genomic regions of interest at scale.…

Spike-in panels designed to complement exome sequencing through evenly distributed genome-wide coverage, aimed at improving the detection of copy number variations (CNVs). Available in three probe densities—100 kb, 50 kb, and 25 kb—they seamlessly integrate into standard Twist target enrichment and capture workflows. Detailed Description Operating Principle Exome sequencing focuses on coding regions and other…

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…

Devyser Thalassemia v2 is a fast and robust NGS solution designed for the detection of genetic variants in alpha and beta thalassemia. It offers comprehensive coverage of the globin genes HBA1, HBA2, HBB, HBD, HBG1, and HBG2, and includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number variations (CNVs). Additionally, it…

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…

Next-generation sequencing kit for the comprehensive analysis of genes associated with familial hypercholesterolemia, including a polygenic risk score and a SNP panel for statin response. Detailed Description Operating Principle The Devyser FH kit is an amplicon-based NGS library preparation solution with a single-tube protocol that enables targeted amplification and sample indexing within a streamlined workflow.…

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.