Human Chromosome Explorer™ (HCE)
Human Chromosome Explorer™ (HCE) is an advanced, cloud-based, whole-genome map assembly and structural variation (SV) analysis software for the Nabsys® HD-Mapping™ platform. Developed by Hitachi High-Tech in collaboration with Nabsys, HCE uses the Google Cloud Platform™. This High-Performance Computing infrastructure creates haplotype-aware human whole-genome map assemblies and performs SV analysis with results visualized and reported through a web browser.
The Nabsys HD-Mapping platform generates long single-molecule reads for human whole-genome analysis of variants from approximately 300 bp in size up to large chromosomal rearrangements. To do this, high molecular weight (HMW) DNA is isolated, and the molecules are labelled at known recognition sites. Single DNA molecules are electrophoretically translocated through a solid-state nanochannel where the labels are electronically detected by changes in resistance caused by the analyte.
The results are single-molecule maps of each DNA molecule with the location of, and distance between, each label. The single-molecule maps are assembled by HCE into map contigs containing all labeled locations within the sample and then aligned against a reference genome map. Shifts in the loci of the labels are indicative of shifts in the genome that serve as the basis for SV analysis.
Simple – An intuitive web-based user interface allows users to upload, run, and analyze results without bioinformatics expertise or support.
Secure – Built in Google Cloud Platform, HCE benefits from the very latest and best encryption and cloud security. Click here to learn more about HCE security.
Affordable – Because HCE lives in the cloud there is no need for expensive hardware or related human resources.
How to Use
HCE is integrated into the HD-Mapping platform available from our strategic partner Nabsys.