Elucidation of Complex Genetic Variation Using Nabsys Electronic Whole Genome Maps

Genome assembly and analysis has proven a complex and difficult task. While next generation sequencing technologies provide high resolution information, limitations imposed by short read length and sequencing bias combined with sequence features such as polymorphism, copy number variation and tandem repeats present challenges for assembly. Longer range techniques such as optical mapping utilize long reads and are therefore able to provide information over a larger scale, but lack resolution and throughput.

To provide the necessary long-range information while maintaining sufficient resolution to complement next generation sequencing technologies, Nabsys has developed its HD-Mapping^TM platform to construct electronic whole genome maps. The major advantages of electronic sensing are higher sensitivity, accuracy, scalability, and speed of detection. Single-molecule events translocate through the detector at velocities above 1 megabase pair per second. By analyzing reads that are hundreds of kilobases in length, electronic detection preserves long-range information while simultaneously achieving unparalleled resolution and accuracy. Single-molecule reads have high resolution and low false-negative and false-positive error rates resulting in high information content per read.

We present the application of Nabsys electronic maps to detect small variants on the scale of a next-generation sequencing read, large-scale structural variants, and the resolution of tandem repeats.