De novo human SV analysis requires long reads of DNA molecules and informatics that can capture and detangle the multi-dimensional complexities of these structural anomalies. Nabsys has developed the HD-Mapping platform to construct human whole genome maps providing routine, accurate, cost-effective analysis of large SVs. Hitachi Human Chromosome Explorer (HCE) is a powerful cloud-based analysis pipeline that performs de novo assembly (without the use of a reference), alignment and large SV detection in about an hour.
The Nabsys/HCE system employs electronic detection to enable higher resolution and accuracy than is possible with optical mapping technologies. These features result in higher information content per single-molecule read, and the ability to construct high density maps with long-range information, with a reduction in the required length of DNA for unique placement of single-molecule reads in a genome.
HCE then identifies high quality long reads as seeds from which map contigs can grow allowing for de novo genome assembly. High-performance cloud (HPC) computing enables the distribution of SV analysis across multiple compute nodes substantially reducing time to results.