Isogenomic reference genomes by de novo assembly of experimentally-relevant human diploid laboratory cell lines
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The rapid development in sequencing technologies provided us with the first haploid human reference genome without gaps, the CHM13, and a near-complete human diploid genome, the HG002 in 2022. The analysis of these assemblies have highlighted significant divergence between individuals’ repetitive DNA and other highly polymorphic loci. In line with these observations, it has become apparent that omics studies must be supported by a matched genome reference, for which we coined the term ‘isogenomic’. Here, we propose a novel approach using isogenomic referencing for omics analyses and present a near-complete human genome assembly of the diploid Retinal Pigment Epithelial (RPE-1) cell line, commonly used in molecular and cell biology laboratories around the world.