US-based genome mapping solutions provider Bionano Genomics is set to launch its new system Saphyr for genome mapping and structural variation analysis.
Equipped with the firm's next-generation mapping (NGM), Saphyr is a high-speed, high-throughput platform claimed to deliver sensitivity and specificity in structural variation (SV) detection.
The system is designed to further provide genome assembly contiguities up to 100-fold longer than those of short-read sequence assemblies and the structural accuracy to correct sequencing-based errors.
The system can be used in SV discovery for translational and clinical research on undiagnosed genetic disorders, gene discovery, therapy development and cancer, as well as in non-human genomics for selective breeding, evolutionary biology and reference-quality genome assembly.
A combination of proprietary NanoChannel arrays and optical genome mapping, Saphyr performs NGM at speeds and throughputs, making it suitable for quick study of large populations and highly complex genomes.
Saphyr utilises fast, single-fluor sensitivity and high resolution scanning for imaging of the genomes, while the system's suite of tools enable researchers to perform deep heterozygous SV discovery in a single run with one Saphyr chip.
The new platform features a web-enabled solution called Bionano Access analysis and visualisation software, which allows easy set-up of experiments, start runs, monitoring of data quality metrics and automatic start of de novo assemblies and SV discovery analysis.
The Access also includes a trio analysis application that enables detection of inherited and de novo SVs as well as allows their visualisation and export in a dbVar-compliant VCF file for downstream analysis.