Homo sapiens isolate:eHAP1 Genome sequencing and assembly. Homo sapiens isolate:eHAP1

This reference genome was generated using data exclusively from eHAP1 cells. First, a reference assembly was generated using Nanopore long reads from eHAP1 cells. Due to the lower quality of long reads, this reference was polished using previously generated short reads from eHAP1 cells using the program Pilon. This genome was further polished using the same short reads from eHAP1 cells using ntEdit. An additional round of polishing was performed using short read data from the parental HAP1 cells using ntEdit. This reference contains additional sequence coverage from the parental cell line, which was used in the final step of polishing. This may impact the resolution of eHAP1 specific variants.