Establishment of an eHAP1 human haploid cell line hybrid reference genome assembled from short and long reads.

ABSTRACT: Haploid cell lines are a valuable research tool with broad applicability for genetic assays. As such the fully haploid human cell line, eHAP1, has been used in a wide array of studies. However, the absence of a corresponding reference genome sequence for this cell line has limited the potential for more widespread applications to experiments dependent on available sequence, like capture-clone methodologies. We generated ~15× coverage Nanopore long reads from ten GridION flowcells and utilized this data to assemble a de novo draft genome using minimap and miniasm and subsequently polished using Racon. This assembly was further polished using previously generated, low-coverage, Illumina short reads with Pilon and ntEdit. This resulted in a hybrid eHAP1 assembly with >90% complete BUSCO score

SUBMITTER: Law WD 

PROVIDER: S-EPMC10298834 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature