Member since: 2019
This data is instrumental in the QC of our WG assemblies
Application Area: Used to detect SVs, find potential assembly issues, as well as for scaffolding assemblies
"We use the Saphyr for our own projects as well as within our service center. We are very pleased with the results we get from this instrument. The Saphyr and DLE is a big improvement over the previous instrument and chemistry. This data is instrumental in the QC of our whole genome assemblies as well as scaffolding the assemblies."
Member since: 2019
Organization: Max Planck Institute for Biophysical Chemistry
Excellent instrument for optical genome mapping.
Application Area:Analyze bacterial and mamalian DNA
"Bionano is the innovative company producing optical genome mapping devices and providing tools for acquisition and analysis of the results. The instrument is easy to use and maintenance is simple. Optical mapping is an easy way to check for chromosome rearrangements and verify genome integrity. In general this device in not expensive and achieves high quality results."
Saphyr, Bionano’s high-speed, high-throughput genome mapping solution, detects and analyzes genome-wide structural variations with exceptional sensitivity and specificity to reveal the true structure of any genome. Saphyr’s breakthrough speed and throughput combined with unmatched structural variation sensitivity make it the ideal solution for identifying disease-associated structural variants in human genetics and oncology translational and clinical research studies.
Saphyr enables Bionano's high-resolution optical genome mapping.
The instrument scans Bionano's proprietary NanoChannel arrays to image extremely long, single DNA molecules in their native state. This technology allows for unparalleled structural variation detection sensitivity, improved genome assembly contiguity up to 1000 times that of short-read sequencing alone and the accuracy to correct sequencing-based assembly errors.
Resolve structural variations missed by next-generation sequencing (NGS) and cytogenetic systems
Structural variations are responsible for many diseases and conditions, including cancers and developmental disorders. Saphyr detects structural variations and chromosomal abnormalities ranging from 500 bp to megabase pairs in length and offers assembly and discovery algorithms that far outperform sequencing-based technologies in sensitivity.
In mosaic samples or complex heterogeneous tumors, Saphyr can detect all above mentioned structural variant types with 90% sensitivity in as low as 5% allele fraction. Saphyr provides this performance typically with a false positive rate of less than 2%. Saphyr also measures repeat arrays and solves complex rearrangements.