Abstract: Even though much of the human genome sequence has been known for decades, the initially reported sequence suffers from two major faults: it lacks the “hard parts” and it does not adequately represent the variation intrinsic to each human genome. Efforts to capture and report these hard parts and identify the nature and significance of this variation has occupied researchers ever since the original sequence reports. Genomic mapping involves the detection of location-specific analytes on DNA molecules to map genomes to reference sequences or carry out de novo assembly and identify structural variants. A high-resolution mapping technology that utilizes ultra-long linear DNA and electronic detection to complement next-gen sequencing has allowed Nabsys to address both issues.
NGS, in the regions that have technology-appropriate sequence, has excelled at finding single nucleotide variants. However, it has not been effective in identifying long repeats and other large structural variants. The Nabsys electronic genome mapping platform enables high resolution genome-wide structural variant (SV) detection utilizing state-of-the-art electronic nano-detectors. The use of electronic detection enables 5X better resolution than optical detection methods and results in higher accuracy and sensitivity. Electronic detection eliminates the need for expensive imaging systems, enabling a compact benchtop solution for any laboratory. This allows researchers access to unbiased genome-wide SV analysis and the ability to discover novel genetic variation missed by NGS using a simplified workflow that replaces complex cytogenetic methods.