Whole Genome Variant Discovery
Whole genome variant discovery analysis is performed by Human Chromosome Explorer™ (HCE). HCE is an advanced, cloud-based, whole-genome map assembly and structural variation (SV) analysis software for the OhmX platform. Developed by Hitachi High-Tech in collaboration with Nabsys, HCE uses 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.
OhmX signal processed, calibrated, and filtered single molecule reads are de novo assembled by HCE into map contigs containing all labeled locations within the sample and are 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.