Peer-reviewed · Nature Communications · 2025
The reference genome of the human diploid cell line RPE-1
This study aimed to produce a reference-quality diploid genome assembly for hTERT RPE-1, a widely used non-cancerous retinal epithelial model. Using long-read sequencing and Hi-C data, the authors built a phased assembly spanning all centromeres and identified haplotype-specific variation, including a characteristic translocation between chromosomes X and 10.
Volpe et al.
This study aimed to produce a reference-quality diploid genome assembly for hTERT RPE-1, a widely used non-cancerous retinal epithelial model. Using long-read sequencing and Hi-C data, the authors built a phased assembly spanning all centromeres and identified haplotype-specific variation, including a characteristic translocation between chromosomes X and 10.
Dante Labs’ involvement
Our bioinformatics team co-authored this paper. Riccardo Ottalevi of Dante Labs is an author, and together with Mattia Capulli supervised the generation of the PacBio long-read sequencing data from which the RPE-1 reference genome was assembled.
The authors also thank Riccardo Paone, Isabella Baldini, Juan Caceres and Noemi Di Sabatino at Dante Labs for the generous sharing of insight, space and resources.
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