Complete diploid isogenomic human reference genomes for epigenetic precision

The human reference genome is an essential tool for interpreting sequencing data. Recently, the CHM13 assembly, created from a non-viable molar pregnancy, has become the first complete human haploid reference genome. This new assembly includes previously difficult-to-map regions, such as centromeres and other repetitive sequences.

Recent studies have revealed significant differences in the sequences of human haplotypes. These variations, which affect around half of all genes, are particularly pronounced in repetitive elements like centromeres. Given this diversity, relying solely on a single reference genome for multiomic analyses can lead to biased results.

In this webinar, Simona Giunta, associate professor of human genomics at the Sapienza University of Rome, described a novel approach to human genomics — which her team named isogenomic referencing — to obtain high-precision alignments.

Key Highlights:

• Insights into the first complete diploid human genome assembly of the RPE-1 cell line.
• Advantages of using RPE-1 genome as a reference for sequencing data analysis.
• Enhancements in alignment quality, haplotype assignment, and peak calling accuracy.
• Comparison with traditional reference genomes like CHM13 and HG002.