First Long-Range Non-Optical Maps of Human Genomes and Their Applications

Despite advances in next generation sequencing technologies, limitations imposed by short read length combined with sequence features such as polymorphism and copy number repeats present challenges for genomic assembly and analysis. Longer range techniques such as optical mapping utilize long reads to provide information over a larger scale, but lack resolution and throughput.

To bridge the gap, Nabsys has employed its HD-Mapping™ platform to construct the first long-range, electronic maps of whole human genomes. 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. Single-molecule reads have high resolution and low false-negative and false-positive error rates resulting in high information content per read.

Using its electronic HD-Mapping platform, Nabsys has constructed whole human genome maps characterized by high depth of coverage as well as coverage of greater than 99% of the reference genome. We present the first application of electronic whole human genome maps. Examples of structural variants and tandem repeats in a human reference genome, as well as analysis of large-scale chromosomal rearrangements in a breast cancer genome, MCF-7.