Targeted Sequencing

Targeted sequencing is a powerful way to increase the cost-effectiveness of variant discovery and detection. Targeted resequencing aims to identify causative mutations within discrete genomic loci in populations by isolating and sequencing genomic regions of interest from a sample library. It is one of the fastest growing applications for next-generation sequencing technologies.

Fusion Detection

Archer® FusionPlex® Kits are purpose-built for gene fusion detection using next-generation sequencing on Illumina® and Ion Torrent™ platforms. Each kit generates target-enriched cDNA libraries from RNA, even from FFPE samples. Produced libraries can be analyzed, free of charge, with Archer Analysis, an optimized in silico bioinformatics solution that clearly presents detected fusions, breakpoints and variants with robust statistical quality assurances.

The Archer® VariantPlex™ Assay system generates target-enriched libraries for next-generation sequencing from DNA inputs. VariantPlex assays enable accurate and comprehensive detection of copy number variations, single-nucleotide variants and insertions and deletions from low-input FFPE and other clinical sample types.

All ArcherDX assays utilise Anchored Multiplex PCR that enables the detection of targets of interest, including any known or novel fusion partners by using target-specific uni-directional primers along with reverse primers, that hybridize to the sequencing adapter that is ligated to each fragment prior to amplification. AMP technology also utilizes Molecular Barcode Adapters for error correction, sample identification, de duplication, and advanced analysis in targeted sequencing NGS applications.

Exomes and custom panel sequencing

The Roche NimbleGen SeqCap EZ Target Enrichment System is a solution-based probe capture method that enables enrichment of the whole exome or customer regions of interest in a single test tube. Built upon an optimized design algorithm, SeqCap EZ Library sets a new standard for a simple single-step enrichment method. For capture and sequencing of large gene panels and exomes, there is no better solution than NimbleGen.

High sample throughput for custom panels

The Juno Targeted Sequencing Library Preparation System allows you to easily scale next-generation sequencing sample throughput. Providing operational efficiency for detecting known or de novo DNA variants, the system is ideal for routine testing or large-scale screening projects. Microfluidic processing automates amplicon enrichment and sample barcoding, enabling you to accurately sequence more samples faster and more affordably than ever before.

The high-throughput design of the 192.24 Juno Targeted DNA Sequencing IFC generates up to 192 libraries per run. A simplified NGS panel design uses low-complexity primer pools that automatically combine after amplification, enabling sample enrichment for up to 2,400 unique amplicons. And the large set of Fluidigm sample barcodes delivers additional scalability and savings by increasing the multiplex potential per sequencing run.

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