Genome Sequencer 20: Simplified High-Throughput Sequencing
The Genome Sequencer 20 is an instrument designed to meet the growing demands of genomic research, offering reduced processing time and reliable accuracy. Its principle is based on sequencing-by-synthesis performed in parallel on hundreds of thousands of DNA fragments cloned by emulsion amplification (emPCR). By eliminating bacterial cloning steps, it significantly reduces sample preparation time while removing biases associated with cell culture.
The process begins with the fragmentation of genomic DNA or cDNA, followed by the addition of A and B adaptors. These fragments are then bound to DNA-capturing beads and individually amplified within microdroplets via emPCR. Each cloned bead is deposited into a well of a PicoTiterPlate, where sequencing is performed in parallel using nucleotide incorporation cycles. The light signal generated during incorporation is recorded by a CCD camera, and each sequence is interpreted based on the signal intensity.
Base calling, relying on fluorescence intensity, is processed by dedicated software that provides usable results in FASTA, SFF, and other standard formats. Mapping, mutation detection, and de novo assembly capabilities are integrated into a Linux-based environment optimized for handling large-scale data sets.
The system architecture includes a central unit combining optical and fluidic components, with reagent cartridges, valves, pumps, and the PicoTiterPlate platform. Its modular design allows adaptation to various project types, including small genome sequencing, gene expression analysis, and the identification of rare genetic variants in complex samples.
The system performs particularly well in three major application areas: whole genome sequencing, transcriptomic studies, and amplicon analysis. It enables de novo sequencing and resequencing projects, gene expression profiling, miRNA or siRNA identification, and mutation detection in heterogeneous samples with a depth of up to 5000x.
The Genome Sequencer 20 is also used for protein-binding site mapping, DNA methylation studies, and high-resolution SNP detection in clinical research or population genetics. It can process over 200,000 reads in parallel, and its design enables complete coverage of complex regions without subcloning.
Thanks to its proven performance, this system has been widely adopted in projects ranging from cancer analysis to environmental metagenomics and ancient DNA sequencing. Its robustness, accuracy, and compatibility with open bioinformatics tools make it a reliable and reproducible sequencing technology for laboratories seeking a dependable solution.
