Preprint · bioRxiv · 2023
The complete diploid reference genome of RPE-1 identifies human phased epigenetic landscapes
This work assembled a complete diploid genome for the human cell line RPE-1, with fully phased haplotypes and chromosome-level scaffolds that span centromeres. Using this matched reference improved mapping of multi-omics sequencing data from RPE-1 cells and revealed haplotype-specific genetic and epigenetic variation.
Volpe et al.
This work assembled a complete diploid genome for the human cell line RPE-1, with fully phased haplotypes and chromosome-level scaffolds that span centromeres. Using this matched reference improved mapping of multi-omics sequencing data from RPE-1 cells and revealed haplotype-specific genetic and epigenetic variation.
Dante Labs’ involvement
Our bioinformatics team co-authored this preprint. 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 diploid 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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